학술논문
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'학술논문'
에서 검색결과 133건 | 목록
1~20
Academic Journal
Johnson, Brett V.; Kumar, Raman; Oishi, Sabrina; Alexander, Suzy; Kasherman, Maria; Vega, Michelle Sanchez; Ivancevic, Atma; Gardner, Alison; Domingo, Deepti; Corbett, Mark; Parnell, Euan; Yoon, Sehyoun; Oh, Tracey; Lines, Matthew; Lefroy, Henrietta; Kini, Usha; Van Allen, Margot; Grønborg, Sabine; Mercier, Sandra; Küry, Sébastien; Bézieau, Stéphane; Pasquier, Laurent; Raynaud, Martine; Afenjar, Alexandra; Billette de Villemeur, Thierry; Keren, Boris; Désir, Julie; Van Maldergem, Lionel; Marangoni, Martina; Dikow, Nicola; Koolen, David A.; VanHasselt, Peter M.; Weiss, Marjan; Zwijnenburg, Petra; Sa, Joaquim; Reis, Claudia Falcao; López-Otín, Carlos; Santiago-Fernández, Olaya; Fernández-Jaén, Alberto; Rauch, Anita; Steindl, Katharina; Joset, Pascal; Goldstein, Amy; Madan-Khetarpal, Suneeta; Infante, Elena; Zackai, Elaine; Mcdougall, Carey; Narayanan, Vinodh; Ramsey, Keri; Mercimek-Andrews, Saadet; Pena, Loren; Shashi, Vandana; Schoch, Kelly; Sullivan, Jennifer A.; Pinto e Vairo, Filippo; Pichurin, Pavel N.; Ewing, Sarah A.; Barnett, Sarah S.; Klee, Eric W.; Perry, M. Scott; Koenig, Mary Kay; Keegan, Catherine E.; Schuette, Jane L.; Asher, Stephanie; Perilla-Young, Yezmin; Smith, Laurie D.; Rosenfeld, Jill A.; Bhoj, Elizabeth; Kaplan, Paige; Li, Dong; Oegema, Renske; van Binsbergen, Ellen; van der Zwaag, Bert; Smeland, Marie Falkenberg; Cutcutache, Ioana; Page, Matthew; Armstrong, Martin; Lin, Angela E.; Steeves, Marcie A.; Hollander, Nicolette den; Hoffer, Mariëtte J.V.; Reijnders, Margot R.F.; Demirdas, Serwet; Koboldt, Daniel C.; Bartholomew, Dennis; Mosher, Theresa Mihalic; Hickey, Scott E.; Shieh, Christine; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Tezcan, Kamer; Schaefer, G.B.; Danylchuk, Noelle R.; Asamoah, Alexander; Jackson, Kelly E.; Yachelevich, Naomi; Au, Margaret; Pérez-Jurado, Luis A.; Kleefstra, Tjitske; Penzes, Peter; Wood, Stephen A.; Burne, Thomas; Pierson, Tyler Mark; Piper, Michael; Gécz, Jozef; Jolly, Lachlan A.; Acosta, Maria T.; Adams, David R.; Aday, Aaron; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Barbouth, Deborah; Batzli, Gabriel F.; Beggs, Alan H.; Bellen, Hugo J.; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bivona, Stephanie; Bonnenmann, Carsten; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brokamp, Elly; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Carrasquillo, Olveen; Peter Chang, Ta Chen; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D'Souza, Precilla; Dasari, Surendra; Davids, Mariska; Davidson, Jean M.; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Dries, Annika M.; Duncan, Laura; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Enns, Gregory M.; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Friedman, Noah D.; Gahl, William A.; Godfrey, Rena A.; Goldman, Alica M.; Goldstein, David B.; Gourdine, Jean-Philippe F.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; High, Frances; Holm, Ingrid A.; Hom, Jason; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Karaviti, Lefkothea; Kelley, Emily G.; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Lam, Byron; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; May, Thomas; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; Merker, Jason D.; Metz, Thomas O.; Might, Matthew; Morava-Kozicz, Eva; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Nath, Avi; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pak, Stephen; Pallais, J. Carl; Palmer, Christina GS.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Renteri, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rowley, Robb K.; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Scott, Daryl A.; Shakachite, Lisa; Sharma, Prashant; Shields, Kathleen; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sweetser, David A.; Tamburro, Cecelia P.; Tan, Queenie K.-G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Wegner, Daniel; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Woods, Jeremy D.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, John; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan; Gahl, William
Biological Psychiatry. 87(2):100-112
Academic Journal
Kumble, S; Levy, AM; Punetha, J; Gao, H; Ah Mew, N; Anyane-Yeboa, K; Benke, PJ; Berger, SM; Bjerglund, L; Campos-Xavier, B; Ciliberto, M; Cohen, JS; Comi, AM; Curry, C; Damaj, L; Denommé-Pichon, AS; Emrick, L; Faivre, L; Fasano, MB; Fiévet, A; Finkel, RS; García-Miñaúr, S; Gerard, A; Gomez-Puertas, P; Guillen Sacoto, MJ; Hoffman, TL; Howard, L; Iglesias, AD; Izumi, K; Larson, A; Leiber, A; Lozano, R; Marcos-Alcalde, I; Mintz, CS; Mullegama, SV; Møller, RS; Odent, S; Oppermann, H; Ostergaard, E; Pacio-Míguez, M; Palomares-Bralo, M; Parikh, S; Paulson, AM; Platzer, K; Posey, JE; Potocki, L; Revah-Politi, A; Rio, M; Ritter, AL; Robinson, S; Rosenfeld, JA; Santos-Simarro, F; Sousa, SB; Wéber, M; Xie, Y; Chung, WK; Brown, NJ; Tümer, Z; Acosta, MT; Adam, M; Adams, DR; Agrawal, PB; Alejandro, ME; Alvey, J; Amendola, L; Andrews, A; Ashley, EA; Azamian, MS; Bacino, CA; Bademci, G; Baker, E; Balasubramanyam, A; Baldridge, D; Bale, J; Bamshad, M; Barbouth, D; Bayrak-Toydemir, P; Beck, A; Beggs, AH; Behrens, E; Bejerano, G; Bennet, J; Berg-Rood, B; Bernstein, JA; Berry, GT; Bican, A; Bivona, S; Blue, E; Bohnsack, J; Bonnenmann, C; Bonner, D; Botto, L; Boyd, B; Briere, LC; Brokamp, E; Brown, G; Burke, EA; Burrage, LC; Butte, MJ; Byers, P
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
Universidad Francisco de Vitoria
instname
Human mutation, vol. 43, no. 2, pp. 266-282
Kumble, S & Undiagnosed Diseases Network 2022, ' The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder ', Human Mutation, vol. 43, no. 2, pp. 266-282 . https://doi.org/10.1002/humu.24308
Tümer, Z & Undiagnosed Diseases Network 2022, ' The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder ', Human Mutation, vol. 43, no. 2, pp. 266-282 . https://doi.org/10.1002/humu.24308
Universidad Francisco de Vitoria
instname
Human mutation, vol. 43, no. 2, pp. 266-282
Kumble, S & Undiagnosed Diseases Network 2022, ' The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder ', Human Mutation, vol. 43, no. 2, pp. 266-282 . https://doi.org/10.1002/humu.24308
Tümer, Z & Undiagnosed Diseases Network 2022, ' The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder ', Human Mutation, vol. 43, no. 2, pp. 266-282 . https://doi.org/10.1002/humu.24308
Academic Journal
Siddharth Srivastava; Hagar Mor Shaked; Kenneth Gable; Sita D Gupta; Xueyang Pan; Niranjanakumari Somashekarappa; Gongshe Han; Payam Mohassel; Marc Gotkine; Elizabeth Doney; Paula Goldenberg; Queenie K G Tan; Yi Gong; Benjamin Kleinstiver; Brian Wishart; Heidi Cope; Claudia Brito Pires; Hannah Stutzman; Rebecca C Spillmann; Mercedes E Alejandro; Mahshid S Azamian; Carlos A Bacino; Ashok Balasubramanyam; Lindsay C Burrage; Hsiao-Tuan Chao; Gary D Clark; William J Craigen; Hongzheng Dai; Shweta U Dhar; Lisa T Emrick; Alica M Goldman; Neil A Hanchard; Fariha Jamal; Lefkothea Karaviti; Seema R Lalani; Brendan H Lee; Richard A Lewis; Ronit Marom; Paolo M Moretti; David R Murdock; Sarah K Nicholas; James P Orengo; Jennifer E Posey; Lorraine Potocki; Jill A Rosenfeld; Susan L Samson; Daryl A Scott; Alyssa A Tran; Tiphanie P Vogel; Michael F Wangler; Shinya Yamamoto; Christine M Eng; Pengfei Liu; Patricia A Ward; Edward Behrens; Matthew Deardorff; Marni Falk; Kelly Hassey; Kathleen Sullivan; Adeline Vanderver; David B Goldstein; Allyn McConkie-Rosell; Kelly Schoch; Vandana Shashi; Edward C Smith; Jennifer A Sullivan; Queenie K-G Tan; Nicole M Walley; Pankaj B Agrawal; Alan H Beggs; Gerard T Berry; Lauren C Briere; Laurel A Cobban; Matthew Coggins; Cynthia M Cooper; Elizabeth L Fieg; Frances High; Ingrid A Holm; Susan Korrick; Joel B Krier; Sharyn A Lincoln; Joseph Loscalzo; Richard L Maas; Calum A MacRae; J Carl Pallais; Deepak A Rao; Lance H Rodan; Edwin K Silverman; Joan M Stoler; David A Sweetser; Melissa Walker; Chris A Walsh; Cecilia Esteves; Emily G Kelley; Isaac S Kohane; Kimberly LeBlanc; Alexa T McCray; Anna Nagy; Surendra Dasari; Brendan C Lanpher; Ian R Lanza; Eva Morava; Devin Oglesbee; Guney Bademci; Deborah Barbouth; Stephanie Bivona; Olveen Carrasquillo; Ta Chen Peter Chang; Irman Forghani; Alana Grajewski; Rosario Isasi; Byron Lam; Roy Levitt; Xue Zhong Liu; Jacob McCauley; Ralph Sacco; Mario Saporta; Judy Schaechter; Mustafa Tekin; Fred Telischi; Willa Thorson; Stephan Zuchner; Heather A Colley; Jyoti G Dayal; David J Eckstein; Laurie C Findley; Donna M Krasnewich; Laura A Mamounas; Teri A Manolio; John J Mulvihill; Grace L LaMoure; Madison P Goldrich; Tiina K Urv; Argenia L Doss; Maria T Acosta; Carsten Bonnenmann; Precilla D’Souza; David D Draper; Carlos Ferreira; Rena A Godfrey; Catherine A Groden; Ellen F Macnamara; Valerie V Maduro; Thomas C Markello; Avi Nath; Donna Novacic; Barbara N Pusey; Camilo Toro; Colleen E Wahl; Eva Baker; Elizabeth A Burke; David R Adams; William A Gahl; May Christine V Malicdan; Cynthia J Tifft; Lynne A Wolfe; John Yang; Bradley Power; Bernadette Gochuico; Laryssa Huryn; Lea Latham; Joie Davis; Deborah Mosbrook-Davis; Francis Rossignol; Ben Solomon; John MacDowall; Audrey Thurm; Wadih Zein; Muhammad Yousef; Margaret Adam; Laura Amendola; Michael Bamshad; Anita Beck; Jimmy Bennett; Beverly Berg-Rood; Elizabeth Blue; Brenna Boyd; Peter Byers; Sirisak Chanprasert; Michael Cunningham; Katrina Dipple; Daniel Doherty; Dawn Earl; Ian Glass; Katie Golden-Grant; Sihoun Hahn; Anne Hing; Fuki M Hisama; Martha Horike-Pyne; Gail P Jarvik; Jeffrey Jarvik; Suman Jayadev; Christina Lam; Kenneth Maravilla; Heather Mefford; J Lawrence Merritt; Ghayda Mirzaa; Deborah Nickerson; Wendy Raskind; Natalie Rosenwasser; C Ron Scott; Angela Sun; Virginia Sybert; Stephanie Wallace; Mark Wener; Tara Wenger; Euan A Ashley; Gill Bejerano; Jonathan A Bernstein; Devon Bonner; Terra R Coakley; Liliana Fernandez; Paul G Fisher; Laure Fresard; Jason Hom; Yong Huang; Jennefer N Kohler; Elijah Kravets; Marta M Majcherska; Beth A Martin; Shruti Marwaha; Colleen E McCormack; Archana N Raja; Chloe M Reuter; Maura Ruzhnikov; Jacinda B Sampson; Kevin S Smith; Shirley Sutton; Holly K Tabor; Brianna M Tucker; Matthew T Wheeler; Diane B Zastrow; Chunli Zhao; William E Byrd; Andrew B Crouse; Matthew Might; Mariko Nakano-Okuno; Jordan Whitlock; Gabrielle Brown; Manish J Butte; Esteban C Dell’Angelica; Naghmeh Dorrani; Emilie D Douine; Brent L Fogel; Irma Gutierrez; Alden Huang; Deborah Krakow; Hane Lee; Sandra K Loo; Bryan C Mak; Martin G Martin; Julian A Martínez-Agosto; Elisabeth McGee; Stanley F Nelson; Shirley Nieves-Rodriguez; Christina G S Palmer; Jeanette C Papp; Neil H Parker; Genecee Renteria; Rebecca H Signer; Janet S Sinsheimer; Jijun Wan; Lee-kai Wang; Katherine Wesseling Perry; Jeremy D Woods; Justin Alvey; Ashley Andrews; Jim Bale; John Bohnsack; Lorenzo Botto; John Carey; Laura Pace; Nicola Longo; Gabor Marth; Paolo Moretti; Aaron Quinlan; Matt Velinder; Dave Viskochi; Pinar Bayrak-Toydemir; Rong Mao; Monte Westerfield; Anna Bican; Elly Brokamp; Laura Duncan; Rizwan Hamid; Jennifer Kennedy; Mary Kozuira; John H Newman; John A PhillipsIII; Lynette Rives; Amy K Robertson; Emily Solem; Joy D Cogan; F Sessions Cole; Nichole Hayes; Dana Kiley; Kathy Sisco; Jennifer Wambach; Daniel Wegner; Dustin Baldridge; Stephen Pak; Timothy Schedl; Jimann Shin; Lilianna Solnica-Krezel; Reza Sadjadi; Orly Elpeleg; Chia-Hsueh Lee; Hugo J Bellen; Simon Edvardson; Florian Eichler; Teresa M Dunn
Brain. 146:1420-1435
Academic Journal
Scott Barish; Mumine Senturk; Kelly Schoch; Amanda L Minogue; Diego Lopergolo; Chiara Fallerini; Jake Harland; Jacob H Seemann; Nicholas Stong; Peter G Kranz; Sujay Kansagra; Mohamad A Mikati; Joan Jasien; Mays El-Dairi; Paolo Galluzzi; Maria T Acosta; Margaret Adam; David R Adams; Pankaj B Agrawal; Mercedes E Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A Ashley; Mahshid S Azamian; Carlos A Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A Bernstein; Gerard T Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A Burke; Lindsay C Burrage; Manish J Butte; Peter Byers; William E Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Gary D Clark; Terra R Coakley; Laurel A Cobban; Joy D Cogan; Matthew Coggins; F Sessions Cole; Heather A Colley; Cynthia M Cooper; Heidi Cope; William J Craigen; Andrew B Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Mariska Davids; Jyoti G Dayal; Matthew Deardorff; Esteban C Dell'Angelica; Shweta U Dhar; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Emilie D Douine; David D Draper; Laura Duncan; Dawn Earl; David J Eckstein; Lisa T Emrick; Christine M Eng; Cecilia Esteves; Tyra Estwick; Marni Falk; Liliana Fernandez; Carlos Ferreira; Elizabeth L Fieg; Laurie C Findley; Paul G Fisher; Brent L Fogel; Irman Forghani; Laure Fresard; William A GahlIan-Glass; Rena A Godfrey; Katie Golden-Grant; Alica M Goldman; David B Goldstein; Alana Grajewski; Catherine A Groden; Andrea L Gropman; Irma Gutierrez; Sihoun Hahn; Rizwan Hamid; Neil A Hanchard; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M Hisama; Ingrid A Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Yong Huang; Rosario Isasi; Fariha Jamal; Gail P Jarvik; Jeffrey Jarvik; Suman Jayadev; Jean M Johnston; Lefkothea Karaviti; Emily G Kelley; Jennifer Kennedy; Dana Kiley; Isaac S Kohane; Jennefer N Kohler; Deborah Krakow; Donna M Krasnewich; Elijah Kravets; Susan Korrick; Mary Koziura; Joel B Krier; Seema R Lalani; Byron Lam; Christina Lam; Brendan C Lanpher; Ian R Lanza; C Christopher Lau; Kimberly LeBlanc; Brendan H Lee; Hane Lee; Roy Levitt; Richard A Lewis; Sharyn A Lincoln; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K Loo; Joseph Loscalzo; Richard L Maas; Ellen F Macnamara; Calum A MacRae; Valerie V Maduro; Marta M Majcherska; Bryan Mak; May Christine V Malicdan; Laura A Mamounas; Teri A Manolio; Rong Mao; Kenneth Maravilla; Thomas C Markello; Ronit Marom; Gabor Marth; Beth A Martin; Martin G Martin; Julian A Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Colleen E McCormack; Alexa T McCray; Elisabeth McGee; Heather Mefford; J Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo M Moretti; Marie Morimoto; John J Mulvihill; David R Murdock; Mariko Nakano-Okuno; Avi Nath; Stan F Nelson; John H Newman; Sarah K Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P Orengo; Laura Pace; Stephen Pak; J Carl Pallais; Christina G S Palmer; Jeanette C Papp; Neil H Parker; John A Phillips III; Jennifer E Posey; Lorraine Potocki; Barbara N Pusey; Aaron Quinlan; Wendy Raskind; Archana N Raja; Deepak A Rao; Genecee Renteria; Chloe M Reuter; Lynette Rives; Amy K Robertson; Lance H Rodan; Jill A Rosenfeld; Natalie Rosenwasser; Maura Ruzhnikov; Ralph Sacco; Jacinda B Sampson; Susan L Samson; Mario Saporta; C Ron Scott; Judy Schaechter; Timothy Schedl; Daryl A Scott; Prashant Sharma; Vandana Shashi; Jimann Shin; Rebecca Signer; Catherine H Sillari; Edwin K Silverman; Janet S Sinsheimer; Kathy Sisco; Edward C Smith; Kevin S Smith; Emily Solem; Lilianna Solnica-Krezel; Rebecca C Spillmann; Joan M Stoler; Nicholas StongJ; ennifer A Sullivan; Kathleen Sullivan; Angela Sun; Shirley Sutton; David A Sweetser; Virginia Sybert; Holly K Tabor; Cecelia P Tamburro; Queenie K-GTan; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J Tifft; Camilo Toro; Alyssa A Tran; Brianna M Tucker; Tiina K Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P Vogel; Colleen E Wahl; Stephanie Wallace; Nicole M Walley; Chris A Walsh; Melissa Walker; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F Wangler; Patricia A Ward; Daniel Wegner; Mark Wener; Tara Wenger; Katherine Wesseling Perry; Monte Westerfield; Matthew T Wheeler; Jordan Whitlock; Lynne A Wolfe; Jeremy D Woods; Shinya Yamamoto; John Yang; Guoyun Yu; Diane B Zastrow; Chunli Zhao; Stephan Zuchner; Francesca Ariani; Alessandra Renieri; Francesca Mari; Swathi Arur; Yong-Hui Jiang; Hugo J Bellen
Human Molecular Genetics. 31:2934-2950
Academic Journal
Debdeep Dutta; Oguz Kanca; Rishi V. Shridharan; Paul C. Marcogliese; Benjamin Steger; Marie Morimoto; F. Graeme Frost; Ellen Macnamara; Michael F. Wangler; Shinya Yamamoto; Andreas Jenny; David Adams; May C. Malicdan; Hugo J. Bellen; Mercedes E. Alejandro; Mahshid S. Azamian; Carlos A. Bacino; Ashok Balasubramanyam; Lindsay C. Burrage; Hsiao-Tuan Chao; Gary D. Clark; William J. Craigen; Hongzheng Dai; Fariha Jamal; Lefkothea Karaviti; Shamika Ketkar; Brendan H. Lee; Richard A. Lewis; Ronit Marom; Paolo M. Moretti; Sarah K. Nicholas; James P. Orengo; Jennifer E. Posey; Lorraine Potocki; Daryl A. Scott; Alyssa A. Tran; Tiphanie P. Vogel; Monika Weisz Hubshman; Kim Worley; Christine M. Eng; Pengfei Liu; Patricia A. Ward; Edward Behrens; Kosuke Izumi; Marni Falk; Kelly Hassey; Kathleen Sullivan; Anna Raper; Gonench Kilich; Zhe Zhang; Adeline Vanderver; David B. Goldstein; Heidi Cope; Allyn McConkie-Rosell; Kelly Schoch; Vandana Shashi; Edward C. Smith; Rebecca C. Spillmann; Jennifer A. Sullivan; Queenie K.-G. Tan; Nicole M. Walley; Pankaj B. Agrawal; H. Alan; Gerard T. Berry; Lauren C. Briere; Laurel A. Cobban; Matthew Coggins; Cynthia M. Cooper; Elizabeth L. Fieg; Frances High; Ingrid A. Holm; Susan Korrick; Joel B. Krier; Sharyn A. Lincoln; Joseph Loscalzo; Richard L. Maas; Calum A. MacRae; J. Carl Pallais; Deepak A. Rao; Lance H. Rodan; Edwin K. Silverman; Joan M. Stoler; David A. Sweetser; Melissa Walker; Chris A. Walsh; Cecilia Esteves; Isaac S. Kohane; Kimberly LeBlanc; Alexa T. McCray; Shilpa N. Kobren; Amelia L. M. Tan; Rachel Mahoney; Surendra Dasari; Brendan C. Lanpher; Ian R. Lanza; Eva Morava; Devin Oglesbee; Guney Bademci; Deborah Barbouth; Stephanie Bivona; Olveen Carrasquillo; Ta Chen Pete Chang; Irman Forghani; Alana Grajewski; Rosario Isasi; Byron Lam; Roy Levitt; Xue Zhong Liu; Jacob McCauley; Ralph Sacco; Mario Saporta; Judy Schaechter; Mustafa Tekin; Fred Telischi; Willa Thorson; Stephan Zuchner; Heather A. Colley; Jyoti G. Dayal; David J. Eckstein; Laurie C. Findley; Donna M. Krasnewich; Laura A. Mamounas; Teri A. Manolio; John J. Mulvihill; Grace L. LaMoure; Madison P. Goldrich; Tiina K. Urv; Argenia L. Doss; Maria T. Acosta; Carsten Bonnenmann; Precilla D'Souza; David D. Draper; Carlos Ferreira; Rena A. Godfreyv; Catherine A. Groden; Ellen F. Macnamara; Valerie V. Maduro; Thomas C. Markello; Avi Nath; Donna Novacic; Barbara N. Pusey; Camilo Toro; Colleen E. Wahl; Eva Baker; Elizabeth A. Burke; David R. Adams; William A. Gahl; May Christine V. Malicdan; Cynthia J. Tifft; Lynne A. Wolfe; John Yang; Bradley Power; Bernadette Gochuico; Laryssa Huryn; Lea Latham; Joie Davis; Deborah Mosbrook-Davis; Francis Rossignol; Ben Solomon; John MacDowall; Audrey Thurm; Wadih Zein; Muhammad Yousef; Margaret Adam; Laura Amendola; Michael Bamshad; Anita Beck; Jimmy Bennett; Beverly Berg-Rood; Elizabeth Blue; Brenna Boyd; Peter Byers; Sirisak Chanprasert; Michae Cunningham; Katrina Dipple; Daniel Doherty; Dawn Earl; Ian Glass; Katie Golden-Grant; Sihoun Hahn; Anne Hing; Fuki M. Hisama; Martha Horike-Pyne; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Christina Lam; Kenneth Maravilla; Heather Mefford; J. Lawrence Merritt; Ghayda Mirzaa; Deborah Nickerson; Wendy Raskind; Natalie Rosenwasser; C. RonScott; Angela Sun; Virginia Sybert; Stephanie Wallace; Mark Wener; Tara Wenger; Euan A. Ashley; Gill Bejerano; Jonathan A. Bernstein; Devon Bonner; Terra R. Coakley; Liliana Fernandez; Paul G. Fisher; Jason Hom; Yong Huang; Jennefer N. Kohler; Elijah Kravets; Beth A. Martin; Shruti Marwaha; Archana N. Raja; Chloe M. Reuter; Maura Ruzhnikov; Jacinda B. Sampson; Kevin S. Smith; Shirley Sutton; Holly K. Tabor; Brianna M. Tucker; Matthew T. Wheeler; Diane B. Zastrow; Chunli Zhao; William E. Byrd; Andrew B. Crouse; Matthew Might; Mariko Nakano-Okuno; Jordan Whitlock; Gabrielle Brown; Manish J. Butte; Esteban C. Dell'Angelica; Naghmeh Dorrani; Emilie D. Douine; Brent L. Fogel; Irma Gutierrez; Alden Huang; Deborah Krakow; Hane Lee; Sandra K. Loo; Bryan C. Mak; Martin G. Martin; Julian A. Martínez-Agosto; Elisabeth McGee; Stanley F. Nelson; Shirley Nieves-Rodriguez; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; Genecee Renteria; Rebecca H. Signer; Janet S. Sinsheimer; Jijun Wan; Lee-kai Wang; Katherine Wesseling Perry; Jeremy D. Woods; Justin Alvey; Ashley Andrews; Jim Bale; John Bohnsack; Lorenzo Botto; John Carey; Laura Pace; Nicola Longo; Gabor Marth; Paolo Moretti; Aaron Quinlan; Matt Velinder; Dave Viskochil; Pinar Bayrak-Toydemir; Rong Mao; Monte Westerfield; Anna Bican; Elly Brokamp; Laura Duncan; Rizwan Hamid; Jennifer Kennedy; Mary Kozuira; John H. Newman; John A. Phillips; Lynette Rives; Amy K. Robertson; Emily Solem; Joy D. Cogan; F. Sessions Cole; Nichole Hayes; Dana Kiley; Kathy Sisco; Jennifer Wambach; Daniel Wegner; Dustin Baldridge; Stephen Pak; Timothy Schedl; Jimann Shin; Lilianna Solnica-Krezel
Proc Natl Acad Sci U S A
Academic Journal
Thomas A. Ravenscroft; Jennifer B. Phillips; Elizabeth Fieg; Sameer S. Bajikar; Judy Peirce; Jeremy Wegner; Alia A. Luna; Eric J. Fox; Yi-Lin Yan; Jill A. Rosenfeld; Jonathan Zirin; Oguz Kanca; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanya; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell’Angelica; Shweta U. Dhar; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; David D. Draper; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Marni Falk; Liliana Fernandez; Carlos Ferreira; Elizabeth L. Fieg; Laurie C. Findley; Paul G. Fisher; Brent L. Fogel; Irman Forghani; Laure Fresard; William A. Gahl; Ian Glass; Bernadette Gochuico; Rena A. Godfrey; Katie Golden-Grant; Alica M. Goldman; Madison P. Goldrich; David B. Goldstein; Alana Grajewski; Catherine A. Groden; Irma Gutierrez; Sihoun Hahn; Rizwan Hamid; Neil A. Hanchard; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Yong Huang; Laryssa Huryn; Rosario Isasi; Fariha Jamal; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Lefkothea Karaviti; Jennifer Kennedy; Dana Kiley; Isaac S. Kohane; Jennefer N. Kohler; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Susan Korrick; Mary Koziura; Joel B. Krier; Seema R. Lalani; Byron Lam; Christina Lam; Grace L. LaMoure; Brendan C. Lanpher; Ian R. Lanza; Lea Latham; Kimberly LeBlanc; Brendan H. Lee; Hane Lee; Roy Levitt; Richard A. Lewis; Sharyn A. Lincoln; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; John MacDowall; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; Marta M. Majcherska; Bryan C. Mak; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Kenneth Maravilla; Thomas C. Markello; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Colleen E. McCormack; Alexa T. McCray; Elisabeth McGee; Heather Mefford; J. Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo Moretti; Paolo M. Moretti; Deborah Mosbrook-Davis; John J. Mulvihill; David R. Murdock; Anna Nagy; Mariko Nakano-Okuno; Avi Nath; Stan F. Nelson; John H. Newman; Sarah K. Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina GS. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips; Jennifer E. Posey; Lorraine Potocki; Bradley Power; Barbara N. Pusey; Aaron Quinlan; Wendy Raskind; Archana N. Raja; Deepak A. Rao; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Susan L. Samson; Mario Saporta; C. Ron Scott; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; Vandana Shashi; Jimann Shin; Rebecca Signer; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Emily Solem; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Jennifer A. Sullivan; Kathleen Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Amelia L.M. Tan; Queenie K.-G. Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Audrey Thurm; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Brianna M. Tucker; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Stephanie Wallace; Nicole M. Walley; Chris A. Walsh; Melissa Walker; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Mark Wener; Tara Wenger; Katherine Wesseling Perry; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Jeremy D. Woods; Shinya Yamamoto; John Yang; Muhammad Yousef; Diane B. Zastrow; Wadih Zein; Chunli Zhao; Stephan Zuchner; Paul J. Benke; Eric S. Cameron; Vincent Strehlow; Konrad Platzer; Rami Abou Jamra; Chiara Klöckner; Matthew Osmond; Thomas Licata; Samantha Rojas; David Dyment; Josephine S.C. Chong; Sharyn Lincoln; John H. Postlethwait; Joel Krier; Hugo J. Bellen
Genet Med
Genetics in Medicine, vol 23, iss 10
Genetics in Medicine, vol 23, iss 10
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Academic Journal
Lance H. Rodan; Rebecca C. Spillmann; Harley T. Kurata; Shawn M. Lamothe; Jasmine Maghera; Rami Abou Jamra; Anna Alkelai; Stylianos E. Antonarakis; Isis Atallah; Omer Bar-Yosef; Frédéric Bilan; Kathrine Bjorgo; Xavier Blanc; Patrick Van Bogaert; Yoav Bolkier; Lindsay C. Burrage; Björn U. Christ; Jorge L. Granadillo; Patricia Dickson; Kirsten A. Donald; Christèle Dubourg; Aviva Eliyahu; Lisa Emrick; Kendra Engleman; Michaela Veronika Gonfiantini; Jean-Marc Good; Judith Kalser; Chiara Kloeckner; Guus Lachmeijer; Marina Macchiaiolo; Francesco Nicita; Sylvie Odent; Emily O’Heir; Xilma Ortiz-Gonzalez; Marta Pacio-Miguez; María Palomares-Bralo; Loren Pena; Konrad Platzer; Mathieu Quinodoz; Emmanuelle Ranza; Jill A. Rosenfeld; Eliane Roulet-Perez; Avni Santani; Fernando Santos-Simarro; Ben Pode-Shakked; Cara Skraban; Rachel Slaugh; Andrea Superti-Furga; Isabelle Thiffault; Richard H. van Jaabrsveld; Marie Vincent; Hong-Gang Wang; Pia Zacher; Mercedes E. Alejandro; Mahshid S. Azamian; Carlos A. Bacino; Ashok Balasubramanyam; Hsiao-Tuan Chao; Gary D. Clark; William J. Craigen; Hongzheng Dai; Shweta U. Dhar; Lisa T. Emrick; Alica M. Goldman; Neil A. Hanchard; Fariha Jamal; Lefkothea Karaviti; Seema R. Lalani; Brendan H. Lee; Richard A. Lewis; Ronit Marom; Paolo M. Moretti; David R. Murdock; Sarah K. Nicholas; James P. Orengo; Jennifer E. Posey; Lorraine Potocki; Susan L. Samson; Daryl A. Scott; Alyssa A. Tran; Tiphanie P. Vogel; Michael F. Wangler; Shinya Yamamoto; Christine M. Eng; Pengfei Liu; Patricia A. Ward; Edward Behrens; Matthew Deardorff; Marni Falk; Kelly Hassey; Kathleen Sullivan; Adeline Vanderver; David B. Goldstein; Heidi Cope; Allyn McConkie-Rosell; Kelly Schoch; Vandana Shashi; Edward C. Smith; Jennifer A. Sullivan; Queenie K.-G. Tan; Nicole M. Walley; Pankaj B. Agrawal; Alan H. Beggs; Gerard T. Berry; Lauren C. Briere; Laurel A. Cobban; Matthew Coggins; Cynthia M. Cooper; Elizabeth L. Fieg; Frances High; Ingrid A. Holm; Susan Korrick; Joel B. Krier; Sharyn A. Lincoln; Joseph Loscalzo; Richard L. Maas; Calum A. MacRae; J. Carl Pallais; Deepak A. Rao; Edwin K. Silverman; Joan M. Stoler; David A. Sweetser; Melissa Walker; Chris A. Walsh; Cecilia Esteves; Emily G. Kelley; Isaac S. Kohane; Kimberly LeBlanc; Alexa T. McCray; Anna Nagy; Surendra Dasari; Brendan C. Lanpher; Ian R. Lanza; Eva Morava; Devin Oglesbee; Guney Bademci; Deborah Barbouth; Stephanie Bivona; Olveen Carrasquillo; Ta Chen Peter Chang; Irman Forghani; Alana Grajewski; Rosario Isasi; Byron Lam; Roy Levitt; Xue Zhong Liu; Jacob McCauley; Ralph Sacco; Mario Saporta; Judy Schaechter; Mustafa Tekin; Fred Telischi; Willa Thorson; Stephan Zuchner; Heather A. Colley; Jyoti G. Dayal; David J. Eckstein; Laurie C. Findley; Donna M. Krasnewich; Laura A. Mamounas; Teri A. Manolio; John J. Mulvihill; Grace L. LaMoure; Madison P. Goldrich; Tiina K. Urv; Argenia L. Doss; Maria T. Acosta; Carsten Bonnenmann; Precilla D’Souza; David D. Draper; Carlos Ferreira; Rena A. Godfrey; Catherine A. Groden; Ellen F. Macnamara; Valerie V. Maduro; Thomas C. Markello; Avi Nath; Donna Novacic; Barbara N. Pusey; Camilo Toro; Colleen E. Wahl; Eva Baker; Elizabeth A. Burke; David R. Adams; William A. Gahl; May Christine V. Malicdan; Cynthia J. Tifft; Lynne A. Wolfe; John Yang; Bradley Power; Bernadette Gochuico; Laryssa Huryn; Lea Latham; Joie Davis; Deborah Mosbrook-Davis; Francis Rossignol; null Ben Solomon; John MacDowall; Audrey Thurm; Wadih Zein; Muhammad Yousef; Margaret Adam; Laura Amendola; Michael Bamshad; Anita Beck; Jimmy Bennett; Beverly Berg-Rood; Elizabeth Blue; Brenna Boyd; Peter Byers; Sirisak Chanprasert; Michael Cunningham; Katrina Dipple; Daniel Doherty; Dawn Earl; Ian Glass; Katie Golden-Grant; Sihoun Hahn; Anne Hing; Fuki M. Hisama; Martha Horike-Pyne; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Christina Lam; Kenneth Maravilla; Heather Mefford; J. Lawrence Merritt; Ghayda Mirzaa; Deborah Nickerson; Wendy Raskind; Natalie Rosenwasser; C. Ron Scott; Angela Sun; Virginia Sybert; Stephanie Wallace; Mark Wener; Tara Wenger; Euan A. Ashley; Gill Bejerano; Jonathan A. Bernstein; Devon Bonner; Terra R. Coakley; Liliana Fernandez; Paul G. Fisher; Laure Fresard; Jason Hom; Yong Huang; Jennefer N. Kohler; Elijah Kravets; Marta M. Majcherska; Beth A. Martin; Shruti Marwaha; Colleen E. McCormack; Archana N. Raja; Chloe M. Reuter; Maura Ruzhnikov; Jacinda B. Sampson; Kevin S. Smith; Shirley Sutton; Holly K. Tabor; Brianna M. Tucker; Matthew T. Wheeler; Diane B. Zastrow; Chunli Zhao; William E. Byrd; Andrew B. Crouse; Matthew Might; Mariko Nakano-Okuno; Jordan Whitlock; Gabrielle Brown; Manish J. Butte; Esteban C. Dell’Angelica; Naghmeh Dorrani; Emilie D. Douine; Brent L. Fogel; Irma Gutierrez; Alden Huang; Deborah Krakow; Hane Lee; Sandra K. Loo; Bryan C. Mak; Martin G. Martin; Julian A. Martínez-Agosto; Elisabeth McGee; Stanley F. Nelson; Shirley Nieves-Rodriguez; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; Genecee Renteria; Rebecca H. Signer; Janet S. Sinsheimer; Jijun Wan; Lee-kai Wang; Katherine Wesseling Perry; Jeremy D. Woods; Justin Alvey; Ashley Andrews; Jim Bale; John Bohnsack; Lorenzo Botto; John Carey; Laura Pace; Nicola Longo; Gabor Marth; Paolo Moretti; Aaron Quinlan; Matt Velinder; Dave Viskochil; Pinar Bayrak-Toydemir; Rong Mao; Monte Westerfield; Anna Bican; Elly Brokamp; Laura Duncan; Rizwan Hamid; Jennifer Kennedy; Mary Kozuira; John H. Newman; John A. PhillipsIII; Lynette Rives; Amy K. Robertson; Emily Solem; Joy D. Cogan; F. Sessions Cole; Nichole Hayes; Dana Kiley; Kathy Sisco; Jennifer Wambach; Daniel Wegner; Dustin Baldridge; Stephen Pak; Timothy Schedl; Jimann Shin; Lilianna Solnica-Krezel; Eric Rush; Geoffrey S. Pitt; Ping Yee Billie Au
Genetics in Medicine. 23:1922-1932
Academic Journal
Borras, Silvia; Clark, Caroline; Dean, John; Miedzybrodzka, Zosia; Ross, Alison; Tennant, Stephen; Dabir, Tabib; Donnelly, Deirdre; Humphreys, Mervyn; Magee, Alex; McConnell, Vivienne; McKee, Shane; McNerlan, Susan; Morrison, Patrick J.; Rea, Gillian; Stewart, Fiona; Cole, Trevor; Cooper, Nicola; Cooper-Charles, Lisa; Cox, Helen; Islam, Lily; Jarvis, Joanna; Keelagher, Rebecca; Lim, Derek; McMullan, Dominic; Morton, Jenny; Naik, Swati; O’Driscoll, Mary; Ong, Kai-Ren; Osio, Deborah; Ragge, Nicola; Turton, Sarah; Vogt, Julie; Williams, Denise; Bodek, Simon; Donaldson, Alan; Hills, Alison; Low, Karen; Newbury-Ecob, Ruth; Norman, Andrew M.; Roberts, Eileen; Scurr, Ingrid; Smithson, Sarah; Tooley, Madeleine; Abbs, Steve; Armstrong, Ruth; Dunn, Carolyn; Holden, Simon; Park, Soo-Mi; Paterson, Joan; Raymond, Lucy; Reid, Evan; Sandford, Richard; Simonic, Ingrid; Tischkowitz, Marc; Woods, Geoff; Bradley, Lisa; Comerford, Joanne; Green, Andrew; Lynch, Sally; McQuaid, Shirley; Mullaney, Brendan; Berg, Jonathan; Goudie, David; Mavrak, Eleni; McLean, Joanne; McWilliam, Catherine; Reavey, Eleanor; Azam, Tara; Cleary, Elaine; Jackson, Andrew; Lam, Wayne; Lampe, Anne; Moore, David; Porteous, Mary; Baple, Emma; Baptista, Júlia; Brewer, Carole; Castle, Bruce; Kivuva, Emma; Owens, Martina; Rankin, Julia; Shaw-Smith, Charles; Turner, Claire; Turnpenny, Peter; Tysoe, Carolyn; Bradley, Therese; Davidson, Rosemarie; Gardiner, Carol; Joss, Shelagh; Kinning, Esther; Longman, Cheryl; McGowan, Ruth; Murday, Victoria; Pilz, Daniela; Tobias, Edward; Whiteford, Margo; Williams, Nicola; Barnicoat, Angela; Clement, Emma; Faravelli, Francesca; Hurst, Jane; Jenkins, Lucy; Jones, Wendy; Ajith Kumar, V.K.; Lees, Melissa; Loughlin, Sam; Male, Alison; Morrogh, Deborah; Rosser, Elisabeth; Scott, Richard; Wilson, Louise; Beleza, Ana; Deshpande, Charu; Flinter, Frances; Holder, Muriel; Irving, Melita; Izatt, Louise; Josifova, Dragana; Mohammed, Shehla; Molenda, Aneta; Robert, Leema; Roworth, Wendy; Ruddy, Deborah; Ryten, Mina; Yau, Shu; Bennett, Christopher; Blyth, Moira; Campbell, Jennifer; Coates, Andrea; Dobbie, Angus; Hewitt, Sarah; Hobson, Emma; Jackson, Eilidh; Jewell, Rosalyn; Kraus, Alison; Prescott, Katrina; Sheridan, Eamonn; Thomson, Jenny; Bradshaw, Kirsty; Dixit, Abhijit; Eason, Jacqueline; Haines, Rebecca; Harrison, Rachel; Mutch, Stacey; Sarkar, Ajoy; Searle, Claire; Shannon, Nora; Sharif, Abid; Suri, Mohnish; Vasudevan, Pradeep; Canham, Natalie; Ellis, Ian; Greenhalgh, Lynn; Howard, Emma; Stinton, Victoria; Swale, Andrew; Weber, Astrid; Banka, Siddharth; Breen, Catherine; Briggs, Tracy; Burkitt-Wright, Emma; Chandler, Kate; Clayton-Smith, Jill; Donnai, Dian; Douzgou, Sofia; Gaunt, Lorraine; Jones, Elizabeth; Kerr, Bronwyn; Langley, Claire; Metcalfe, Kay; Smith, Audrey; Wright, Ronnie; Bourn, David; Burn, John; Fisher, Richard; Hellens, Steve; Henderson, Alex; Montgomery, Tara; Splitt, Miranda; Straub, Volker; Wright, Michael; Zwolinski, Simon; Allen, Zoe; Bernhard, Birgitta; Brady, Angela; Brooks, Claire; Busby, Louise; Clowes, Virginia; Ghali, Neeti; Holder, Susan; Ibitoye, Rita; Wakeling, Emma; Blair, Edward; Carmichael, Jenny; Cilliers, Deirdre; Clasper, Susan; Gibbons, Richard; Kini, Usha; Lester, Tracy; Nemeth, Andrea; Poulton, Joanna; Price, Sue; Shears, Debbie; Stewart, Helen; Wilkie, Andrew; Albaba, Shadi; Baker, Duncan; Balasubramanian, Meena; Johnson, Diana; Parker, Michael; Quarrell, Oliver; Stewart, Alison; Willoughby, Josh; Crosby, Charlene; Elmslie, Frances; Homfray, Tessa; Jin, Huilin; Lahiri, Nayana; Mansour, Sahar; Marks, Karen; McEntagart, Meriel; Saggar, Anand; Tatton-Brown, Kate; Butler, Rachel; Clarke, Angus; Corrin, Sian; Fry, Andrew; Kamath, Arveen; McCann, Emma; Mugalaasi, Hood; Pottinger, Caroline; Procter, Annie; Sampson, Julian; Sansbury, Francis; Varghese, Vinod; Baralle, Diana; Callaway, Alison; Cassidy, Emma J.; Daniels, Stacey; Douglas, Andrew; Foulds, Nicola; Hunt, David; Kharbanda, Mira; Lachlan, Katherine; Mercer, Catherine; Side, Lucy; Temple, I. Karen; Wellesley, Diana; Ambrose, J.C.; Arumugam, P.; Baple, E.L.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J.M.; Boustred, C.R.; Caulfield, M.J.; Chan, G.C.; Craig, C.E.H.; Daugherty, L.C.; de Burca, A.; Devereau, A.; Elgar, G.; Foulger, R.E.; Fowler, T.; FurióTarí, P.; Hackett, J.M.; Halai, D.; Hamblin, A.; Henderson, S.; Holman, J.E.; Hubbard, T.J.P.; Ibáñez, K.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Lahnstein, L.; Lawson, K.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; MaleadyCrowe, F.; Mason, J.; McDonagh, E.M.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Polychronopoulos, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Riesgo-Ferreiro, P.; Rogers, T.; Ryten, M.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smedley, D.; Smith, K.R.; Sosinsky, A.; Spooner, W.; Stevens, H.E.; Stuckey, A.; Sultana, R.; Thomas, E.R.A.; Thompson, S.R.; Tucci, A.; Walsh, E.; Watters, S.A.; Welland, M.J.; Williams, E.; Witkowska, K.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennet, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Peter Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davids, Mariska; Dayal, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Estwick, Tyra; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Johnston, Jean M.; Karaviti, Lefkothea; Kelley, Emily G.; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. Christopher; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stan F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Pusey, Barbara N.; Quinlan, Aaron; Raskind, Wendy; Raja, Archana N.; Rao, Deepak A.; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Scott, C. Ron; Schaechter, Judy; Schedl, Timothy; Scott, Daryl A.; Sharma, Prashant; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Stoler, Joan M.; Stong, Nicholas; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tamburro, Cecelia P.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-Kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan; Jeffries, Lauren ; Mis, Emily K. ; McWalter, Kirsty ; Donkervoort, Sandra ; Brodsky, Nina N. ; Carpier, Jean-Marie ; Ji, Weizhen ; Ionita, Cristian ; Roy, Bhaskar ; Morrow, Jon S. ; Darbinyan, Armine ; Iyer, Krishna ; Aul, Ritu B. ; Chao, Katherine R. ; Cobbold, Laura ; Cohen, Stacey ; Custodio, Helena M. ; Drummond-Borg, Margaret ; Finanger, Erika ; Hainline, Bryan E. ; Helbig, Ingo ; Hewson, Stacy ; Hu, Ying ; Jackson, Adam ; Konstantino, Monica ; Leach, Meganne E. ; McCormick, David ; Nelson, Stanley ; Nguyen, Joanne ; Nugent, Kimberly ; Ortega, Lucy ; Goodkin, Howard P. ; Roeder, Elizabeth ; Roy, Sani ; Sapp, Katie ; Saade, Dimah ; Sisodiya, Sanjay M. ; Stals, Karen ; Towner, Shelley ; Wilson, William ; Khokha, Mustafa K. ; Bönnemann, Carsten G. ; Lucas, Carrie L. ; Lakhani, Saquib A.
In Genetics in Medicine February 2024 26(2)
Academic Journal
Felix Marbach; Georgi Stoyanov; Florian Erger; Constantine A. Stratakis; Nikolaos Settas; Edra London; Jill A. Rosenfeld; Erin Torti; Chad Haldeman-Englert; Evgenia Sklirou; Elena Kessler; Sophia Ceulemans; Stanley F. Nelson; Julian A. Martinez-Agosto; Christina G.S. Palmer; Rebecca H. Signer; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Daya; Matthew Deardorff; Esteban C. Dell’Angelica; Shweta U. Dhar; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; David D. Draper; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Marni Falk; Liliana Fernandez; Carlos Ferreira; Elizabeth L. Fieg; Laurie C. Findley; Paul G. Fisher; Brent L. Fogel; Irman Forghani; Laure Fresard; William A. Gahl; Ian Glass; Bernadette Gochuico; Rena A. Godfrey; Katie Golden-Grant; Alica M. Goldman; Madison P. Goldrich; David B. Goldstein; Alana Grajewski; Catherine A. Groden; Irma Gutierrez; Sihoun Hahn; Rizwan Hamid; Neil A. Hanchard; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Yong Huang; Laryssa Huryn; Rosario Isasi; Fariha Jamal; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Lefkothea Karaviti; Jennifer Kennedy; Dana Kiley; Isaac S. Kohane; Jennefer N. Kohler; Susan Korrick; Mary Kozuira; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Joel B. Krier; Grace L. LaMoure; Seema R. Lalani; Byron Lam; Christina Lam; Brendan C. Lanpher; Ian R. Lanza; Lea Latham; Kimberly LeBlanc; Brendan H. Lee; Hane Lee; Roy Levitt; Richard A. Lewis; Sharyn A. Lincoln; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; John MacDowall; Calum A. MacRae; Ellen F. Macnamara; Valerie V. Maduro; Marta M. Majcherska; Bryan C. Mak; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Kenneth Maravilla; Thomas C. Markello; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Colleen E. McCormack; Alexa T. McCray; Elisabeth McGee; Heather Mefford; J. Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo M. Moretti; Paolo Moretti; Deborah Mosbrook-Davis; John J. Mulvihill; David R. Murdock; Anna Nagy; Mariko Nakano-Okuno; Avi Nath; John H. Newman; Sarah K. Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Jeanette C. Papp; Neil H. Parker; John A. Phillips; Jennifer E. Posey; Lorraine Potocki; Bradley Power; Barbara N. Pusey; Aaron Quinlan; Archana N. Raja; Deepak A. Rao; Wendy Raskind; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Susan L. Samson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; C. Ron Scott; Daryl A. Scott; Vandana Shashi; Jimann Shin; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Emily Solem; Lilianna Solnica-Krezel; null Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Jennifer A. Sullivan; Kathleen Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Amelia L.M. Tan; Queenie K.-G. Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Audrey Thurm; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Brianna M. Tucker; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Stephanie Wallace; Nicole M. Walley; Chris A. Walsh; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Mark Wener; Tara Wenger; Katherine Wesseling Perry; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Jeremy D. Woods; Shinya Yamamoto; John Yang; Muhammad Yousef; Diane B. Zastrow; Wadih Zein; Chunli Zhao; Stephan Zuchner; Marisa V. Andrews; Dorothy K. Grange; Rebecca Willaert; Richard Person; Aida Telegrafi; Aaron Sievers; Magdalena Laugsch; Susanne Theiß; YuZhu Cheng; Olivier Lichtarge; Panagiotis Katsonis; Amber Stocco; Christian P. Schaaf
Genet Med
Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 8
Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 8
Academic Journal
McConkie‐Rosell, Allyn; Schoch, Kelly; Sullivan, Jennifer; Spillmann, Rebecca C; Cope, Heidi; Tan, Queenie K‐G; Palmer, Christina GS; Hooper, Stephen R; Shashi, Vandana; Acosta, Maria T; Adam, Margaret; Adams, David R; Agrawal, Pankaj B; Alejandro, Mercedes E; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak‐Toydemir, Pinar; Beck, Anita; Beggs, Alan H; Behrens, Edward; Bejerano, Gill; Bennet, Jimmy; Berg‐Rood, Beverly; Bernstein, Jonathan A; Berry, Gerard T; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A; Burrage, Lindsay C; Butte, Manish J; Byers, Peter; Byrd, William E; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao‐Tuan; Clark, Gary D; Coakley, Terra R; Cobban, Laurel A; Cogan, Joy D; Coggins, Matthew; Sessions Cole, F; Colley, Heather A; Cooper, Cynthia M; Craigen, William J; Crouse, Andrew B; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davids, Mariska; Dayal, Jyoti G; Deardorff, Matthew; Dell'Angelica, Esteban C; Dhar, Shweta U; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douine, Emilie D; Draper, David D; Duncan, Laura; Earl, Dawn; Eckstein, David J; Emrick, Lisa T; Eng, Christine M; Esteves, Cecilia; Estwick, Tyra; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L; Findley, Laurie C; Fisher, Paul G; Fogel, Brent L; Forghani, Irman; Fresard, Laure; Gahl, William A; Glass, Ian; Godfrey, Rena A
Journal of Genetic Counseling, vol 31, iss 1
Academic Journal
Shilpa Nadimpalli Kobren; Dustin Baldridge; Matt Velinder; Joel B. Krier; Kimberly LeBlanc; Cecilia Esteves; Barbara N. Pusey; Stephan Züchner; Elizabeth Blue; Hane Lee; Alden Huang; Lisa Bastarache; Anna Bican; Joy Cogan; Shruti Marwaha; Anna Alkelai; David R. Murdock; Pengfei Liu; Daniel J. Wegner; Alexander J. Paul; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Stephanie Bivona; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Daya; Matthew Deardorff; Esteban C. Dell’Angelica; Shweta U. Dhar; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; David D. Draper; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Liliana Fernandez; Carlos Ferreira; Elizabeth L. Fieg; Laurie C. Findley; Paul G. Fisher; Brent L. Fogel; Irman Forghani; Laure Fresard; William A. Gahl; Ian Glass; Bernadette Gochuico; Rena A. Godfrey; Katie Golden-Grant; Alica M. Goldman; Madison P. Goldrich; David B. Goldstein; Alana Grajewski; Catherine A. Groden; Irma Gutierrez; Sihoun Hahn; Rizwan Hamid; Neil A. Hanchard; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Yong Huang; Laryssa Huryn; Rosario Isasi; Fariha Jamal; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Lefkothea Karaviti; Jennifer Kennedy; Dana Kiley; Isaac S. Kohane; Jennefer N. Kohler; Susan Korrick; Mary Kozuira; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Grace L. LaMoure; Seema R. Lalani; Byron Lam; Christina Lam; Brendan C. Lanpher; Ian R. Lanza; Lea Latham; Brendan H. Lee; Roy Levitt; Richard A. Lewis; Sharyn A. Lincoln; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; John MacDowall; Calum A. MacRae; Ellen F. Macnamara; Valerie V. Maduro; Marta M. Majcherska; Bryan C. Mak; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Kenneth Maravilla; Thomas C. Markello; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martinez-Agosto; Jacob McCauley; Allyn McConkie-Rosell; Colleen E. McCormack; Alexa T. McCray; Elisabeth McGee; Heather Mefford; J. Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo M. Moretti; Paolo Moretti; Deborah Mosbrook-Davis; John J. Mulvihill; Anna Nagy; Mariko Nakano-Okuno; Avi Nath; Stanley F. Nelson; John H. Newman; Sarah K. Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips; Jennifer E. Posey; Lorraine Potocki; Bradley Power; Aaron Quinlan; Archana N. Raja; Deepak A. Rao; Wendy Raskind; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Jill A. Rosenfeld; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Susan L. Samson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; C. Ron Scott; Daryl A. Scott; Vandana Shashi; Jimann Shin; Rebecca H. Signer; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Emily Solem; Lilianna Solnica-Krezel; null Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Jennifer A. Sullivan; Kathleen Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Amelia L.M. Tan; Queenie K.-G. Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Audrey Thurm; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Brianna M. Tucker; Tiina K. Urv; Adeline Vanderver; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Stephanie Wallace; Nicole M. Walley; Chris A. Walsh; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Mark Wener; Tara Wenger; Katherine Wesseling Perry; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Jeremy D. Woods; Shinya Yamamoto; John Yang; Muhammad Yousef; Diane B. Zastrow; Wadih Zein; Chunli Zhao; Stephan Zuchner; Shamil R. Sunyaev
Genet Med
Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 6
Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 6
Academic Journal
Parenti, Ilaria; Lehalle, Daphné; Nava, Caroline; Torti, Erin; Leitão, Elsa; Person, Richard; Mizuguchi, Takeshi; Matsumoto, Naomichi; Kato, Mitsuhiro; Nakamura, Kazuyuki; de Man, Stella A.; Cope, Heidi; Shashi, Vandana; Friedman, Jennifer; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Muffels, Irena; van Hasselt, Peter M.; Petit, Florence; Smol, Thomas; Le Guyader, Gwenaël; Bilan, Frédéric; Sorlin, Arthur; Vitobello, Antonio; Philippe, Christophe; van de Laar, Ingrid M. B. H.; van Slegtenhorst, Marjon A.; Campeau, Philippe M.; Au, Ping Yee Billie; Nakashima, Mitsuko; Saitsu, Hirotomo; Yamamoto, Tatsuya; Nomura, Yumiko; Louie, Raymond J.; Lyons, Michael J.; Dobson, Amy; Plomp, Astrid S.; Motazacker, M. Mahdi; Kaiser, Frank J.; Timberlake, Andrew T.; Fuchs, Sabine A.; Depienne, Christel; Mignot, Cyril; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennet, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Deardorff, Matthew; Dell’Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldrich, Madison P.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Huryn, Laryssa; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Karaviti, Lefkothea; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Lalani, Seema R.; Lam, Byron; Lam, Christina; LaMoure, Grace L.; Lanpher, Brendan C.; Lanza, Ian R.; Latham, Lea; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; MacDowall, John; Macnamara, Ellen F.; Mac-Rae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Mosbrook-Davis, Deborah; Mulvihill, John J.; Murdock, David R.; Nagy, Anna; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stan F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina GS.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Power, Bradley; Pusey, Barbara N.; Quinlan, Aaron; Raskind, Wendy; Raja, Archana N.; Rao, Deepak A.; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Scott, C. Ron; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Shin, Jimann; Signer, Rebecca; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L. M.; Tan, Queenie K.-G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Thurm, Audrey; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yousef, Muhammad; Zastrow, Diane B.; Zein, Wadih; Zhao, Chunli; Zuchner, Stephan
Hum Genet
Academic Journal
Sacha Ferdinandusse; Kirsty McWalter; Heleen te Brinke; Lodewijk IJlst; Petra M. Mooijer; Jos P.N. Ruiter; Alida E.M. van Lint; Mia Pras-Raves; Eric Wever; Francisca Millan; Maria J. Guillen Sacoto; Amber Begtrup; Mark Tarnopolsky; Lauren Brady; Roger L. Ladda; Susan L. Sell; Catherine B. Nowak; Jessica Douglas; Cuixia Tian; Elizabeth Ulm; Seth Perlman; Arlene V. Drack; Karen Chong; Nicole Martin; Jennifer Brault; Elly Brokamp; Camilo Toro; William A. Gahl; Ellen F. Macnamara; Lynne Wolfe; Mercedes E. Alejandro; Mahshid S. Azamian; Carlos A. Bacino; Ashok Balasubramanyam; Lindsay C. Burrage; Hsiao-Tuan Chao; Gary D. Clark; William J. Craigen; Hongzheng Dai; Shweta U. Dhar; Lisa T. Emrick; Alica M. Goldman; Neil A. Hanchard; Fariha Jamal; Lefkothea Karaviti; Seema R. Lalani; Brendan H. Lee; Richard A. Lewis; Ronit Marom; Paolo M. Moretti; David R. Murdock; Sarah K. Nicholas; James P. Orengo; Jennifer E. Posey; Lorraine Potocki; Jill A. Rosenfeld; Susan L. Samson; Daryl A. Scott; Alyssa A. Tran; Tiphanie P. Vogel; Michael F. Wangler; Shinya Yamamoto; Christine M. Eng; Pengfei Liu; Patricia A. Ward; Edward Behrens; Matthew Deardorff; Marni Falk; Kelly Hassey; Kathleen Sullivan; Adeline Vanderver; David B. Goldstein; Heidi Cope; Allyn McConkie-Rosell; Kelly Schoch; Vandana Shashi; Edward C. Smith; Rebecca C. Spillmann; Jennifer A. Sullivan; Queenie K.-G. Tan; Nicole M. Walley; Pankaj B. Agrawal; Alan H. Beggs; Gerard T. Berry; Lauren C. Briere; Laurel A. Cobban; Matthew Coggins; Cynthia M. Cooper; Elizabeth L. Fieg; Frances High; Ingrid A. Holm; Susan Korrick; Joel B. Krier; Sharyn A. Lincoln; Joseph Loscalzo; Richard L. Maas; Calum A. MacRae; J. Carl Pallais; Deepak A. Rao; Lance H. Rodan; Edwin K. Silverman; Joan M. Stoler; David A. Sweetser; Melissa Walker; Chris A. Walsh; Cecilia Esteves; Emily G. Kelley; Isaac S. Kohane; Kimberly LeBlanc; Alexa T. McCray; Anna Nagy; Surendra Dasari; Brendan C. Lanpher; Ian R. Lanza; Eva Morava; Devin Oglesbee; Guney Bademci; Deborah Barbouth; Stephanie Bivona; Olveen Carrasquillo; Ta Chen Peter Chang; Irman Forghani; Alana Grajewski; Rosario Isasi; Byron Lam; Roy Levitt; Xue Zhong Liu; Jacob McCauley; Ralph Sacco; Mario Saporta; Judy Schaechter; Mustafa Tekin; Fred Telischi; Willa Thorson; Stephan Zuchner; Heather A. Colley; Jyoti G. Dayal; David J. Eckstein; Laurie C. Findley; Donna M. Krasnewich; Laura A. Mamounas; Teri A. Manolio; John J. Mulvihill; Grace L. LaMoure; Madison P. Goldrich; Tiina K. Urv; Argenia L. Doss; Maria T. Acosta; Carsten Bonnenmann; Precilla D’Souza; David D. Draper; Carlos Ferreira; Rena A. Godfrey; Catherine A. Groden; Valerie V. Maduro; Thomas C. Markello; Avi Nath; Donna Novacic; Barbara N. Pusey; Colleen E. Wahl; Eva Baker; Elizabeth A. Burke; David R. Adams; May Christine V. Malicdan; Cynthia J. Tifft; Lynne A. Wolfe; John Yang; Bradley Power; Bernadette Gochuico; Laryssa Huryn; Lea Latham; Joie Davis; Deborah Mosbrook-Davis; Francis Rossignol; Ben Solomon; John MacDowall; Audrey Thurm; Wadih Zein; Muhammad Yousef; Margaret Adam; Laura Amendola; Michael Bamshad; Anita Beck; Jimmy Bennett; Beverly Berg-Rood; Elizabeth Blue; Brenna Boyd; Peter Byers; Sirisak Chanprasert; Michael Cunningham; Katrina Dipple; Daniel Doherty; Dawn Earl; Ian Glass; Katie Golden-Grant; Sihoun Hahn; Anne Hing; Fuki M. Hisama; Martha Horike-Pyne; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Christina Lam; Kenneth Maravilla; Heather Mefford; J. Lawrence Merritt; Ghayda Mirzaa; Deborah Nickerson; Wendy Raskind; Natalie Rosenwasser; C. Ron Scott; Angela Sun; Virginia Sybert; Stephanie Wallace; Mark Wener; Tara Wenger; Euan A. Ashley; Gill Bejerano; Jonathan A. Bernstein; Devon Bonner; Terra R. Coakley; Liliana Fernandez; Paul G. Fisher; Laure Fresard; Jason Hom; Yong Huang; Jennefer N. Kohler; Elijah Kravets; Marta M. Majcherska; Beth A. Martin; Shruti Marwaha; Colleen E. McCormack; Archana N. Raja; Chloe M. Reuter; Maura Ruzhnikov; Jacinda B. Sampson; Kevin S. Smith; Shirley Sutton; Holly K. Tabor; Brianna M. Tucker; Matthew T. Wheeler; Diane B. Zastrow; Chunli Zhao; William E. Byrd; Andrew B. Crouse; Matthew Might; Mariko Nakano-Okuno; Jordan Whitlock; Gabrielle Brown; Manish J. Butte; Esteban C. Dell’Angelica; Naghmeh Dorrani; Emilie D. Douine; Brent L. Fogel; Irma Gutierrez; Alden Huang; Deborah Krakow; Hane Lee; Sandra K. Loo; Bryan C. Mak; Martin G. Martin; Julian A. Martínez-Agosto; Elisabeth McGee; Stanley F. Nelson; Shirley Nieves-Rodriguez; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; Genecee Renteria; Rebecca H. Signer; Janet S. Sinsheimer; Jijun Wan; Lee-kai Wang; Katherine Wesseling Perry; Jeremy D. Woods; Justin Alvey; Ashley Andrews; Jim Bale; John Bohnsack; Lorenzo Botto; John Carey; Laura Pace; Nicola Longo; Gabor Marth; Paolo Moretti; Aaron Quinlan; Matt Velinder; Dave Viskochil; Pinar Bayrak-Toydemir; Rong Mao; Monte Westerfield; Anna Bican; Laura Duncan; Rizwan Hamid; Jennifer Kennedy; Mary Kozuira; John H. Newman; John A. Phillips; Lynette Rives; Amy K. Robertson; Emily Solem; Joy D. Cogan; F. Sessions Cole; Nichole Hayes; Dana Kiley; Kathy Sisco; Jennifer Wambach; Daniel Wegner; Dustin Baldridge; Stephen Pak; Timothy Schedl; Jimann Shin; Lilianna Solnica-Krezel; Quinten Waisfisz; Petra J.G. Zwijnenburg; Alban Ziegler; Magalie Barth; Rosemarie Smith; Sara Ellingwood; Deborah Gaebler-Spira; Somayeh Bakhtiari; Michael C. Kruer; Antoine H.C. van Kampen; Ronald J.A. Wanders; Hans R. Waterham; David Cassiman; Frédéric M. Vaz
Genet Med
Ferdinandusse, S, McWalter, K, te Brinke, H, IJlst, L, Mooijer, P M, Ruiter, J P N, van Lint, A E M, Pras-Raves, M, Wever, E, Millan, F, Guillen Sacoto, M J, Begtrup, A, Tarnopolsky, M, Brady, L, Ladda, R L, Sell, S L, Nowak,C B, Douglas, J, Tian, C , Ulm, E, Perlman, S, Drack, A V, Chong, K, Martin, N, Brault, J, Brokamp, E, Toro, C , Gahl, W A, Macnamara, E F, Wolfe, L A, Alejandro, M E, Azamian, M S, Bacino, C A, Balasubramanyam, A, Burrage, L C , Chao, H T, Clark, G D, Craigen, W J, Dai, H, Dhar, S U, Emrick, L T, Goldman, A M, Hanchard, N A, Jamal, F, Karaviti, L, Lalani, S R, Lee, B H, Lewis, R A, Marom, R, Moretti, P, Murdock, D R, Nicholas, S K, Orengo, J P, Posey, J E, Potocki, L, Rosenfeld, J A, Samson, S L, Scott, D A, Tran, A A, Vogel, T P, Wangler, M F, Yamamoto, S, Eng, C M, Liu, P, Ward, P A, Behrens, E, Deardorff, M, Falk, M, Hassey, K, Sullivan, K, Vanderver, A, Goldstein, D B, Cope, H, McConkie-Rosell, A, Schoch, K, Shashi, V, Smith, E C , Spillmann, R C , Sullivan, J A, Tan, Q K G, Walley, N M, Agrawal, P B, Beggs, A H, Berry, G T, Briere, L C , Cobban, L A, Coggins, M, Cooper, C M, Fieg, E L, High, F, Holm, I A, Korrick, S, Krier, J B, Lincoln, S A, Loscalzo, J, Maas, R L, MacRae, C A, Pallais, J C , Rao, D A, Rodan, L H, Silverman, E K, Stoler, J M, Sweetser, D A, Walker, M, Walsh, C A, Esteves, C , Kelley, E G, Kohane, I S, LeBlanc, K, McCray, A T, Nagy, A, Dasari, S, Lanpher, B C , Lanza, I R, Morava, E, Oglesbee, D, Bademci, G, Barbouth, D, Bivona, S, Carrasquillo, O, Chang, T C P, Forghani, I, Grajewski, A, Isasi, R, Lam, B, Levitt, R, Liu, X Z, McCauley, J, Sacco, R, Saporta, M, Schaechter, J, Tekin, M, Telischi, F, Thorson, W, Zuchner, S, Colley, H A, Dayal, J G, Eckstein, D J, Findley, L C , Krasnewich, D M, Mamounas, L A, Manolio, T A, Mulvihill, J J, LaMoure, G L, Goldrich, M P, Urv, T K, Doss, A L, Acosta, M T, Bonnenmann , C , D’Souza, P, Draper, D D, Ferreira, C , Godfrey, R A, Groden, C A, Macnamara, E F, Maduro, V V, Markello, T C , Nath, A, Novacic, D, Pusey, B N, Toro, C , Wahl, C E, Baker, E, Burke, E A, Adams, D R, Gahl, W A, Malicdan, M C V, Tifft, C J, Wolfe, L A, Yang, J, Power, B, Gochuico, B, Huryn, L, Latham, L, Davis, J, Mosbrook-Davis, D, Rossignol, F, Solomon, B, MacDowall, J, Thurm, A, Zein, W, Yousef, M, Adam, M, Amendola, L, Bamshad, M, Beck, A, Bennett, J, Berg-Rood, B, Blue, E, Boyd, B, Byers, P, Chanprasert, S, Cunningham, M, Dipple, K, Doherty, D, Earl, D, Glass, I, Golden-Grant, K, Hahn, S, Hing, A, Hisama, F M, Horike-Pyne, M, Jarvik, G P, Jarvik, J, Jayadev, S, Lam, C , Maravilla, K, Mefford, H, Merritt, J L, Mirzaa, G, Nickerson, D, Raskind, W, Rosenwasser, N, Scott, C R, Sun, A, Sybert, V, Wallace, S, Wener, M, Wenger, T, Ashley, E A, Bejerano, G, Bernstein, J A, Bonner, D, Coakley, T R, Fernandez, L, Fisher, P G, Fresard, L, Hom, J, Huang, Y, Kohler, J N, Kravets, E, Majcherska, M M, Martin, B A, Marwaha, S, McCormack, C E, Raja, A N, Reuter, C M, Ruzhnikov, M, Sampson, J B, Smith, K S, Sutton, S, Tabor, H K, Tucker, B M, Wheeler, M T, Zastrow, D B, Zhao, C , Byrd, W E, Crouse, A B, Might, M, Nakano-Okuno, M, Whitlock, J, Brown, G, Butte, M J, Dell’Angelica, E C , Dorrani, N, Douine, E D, Fogel, B L, Gutierrez, I, Huang, A, Krakow, D, Lee, H, Loo, S K, Mak, B C , Martin, M G, Martínez-Agosto, J A, McGee, E, Nelson, S F, Nieves-Rodriguez, S, Palmer, C G S, Papp, J C , Parker, N H, Renteria, G, Signer, R H, Sinsheimer, J S, Wan, J, Wang, L K, Perry, K W, Woods, J D, Alvey, J, Andrews, A, Bale, J, Bohnsack, J, Botto, L, Carey, J, Pace, L, Longo, N, Marth, G, Moretti, P, Quinlan, A, Velinder, M, Viskochil, D, Bayrak-Toydemir, P, Mao, R, Westerfield, M, Bican, A, Brokamp, E, Duncan, L, Hamid, R, Kennedy, J, Kozuira, M, Newman, J H, Phillips, J A, Rives, L, Robertson, A K, Solem, E, Cogan, J D, Cole, F S, Hayes, N, Kiley, D, Sisco, K, Wambach, J, Wegner, D, Baldridge, D, Pak, S, Schedl, T, Shin, J, Solnica-Krezel, L, Waisfisz, Q, Zwijnenburg, P J G, Ziegler, A, Barth, M, Smith, R, Ellingwood, S, Gaebler-Spira, D, Bakhtiari, S, Kruer, M C , van Kampen, A H C , Wanders, R J A, Waterham, H R, Cassiman, D, Vaz, F M & Undiagnosed Diseases Network 2021, 'An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids', Genetics in Medicine, vol. 23, no. 4, pp. 740-750. https://doi.org/10.1038/s41436-020-01027-3
Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 4
Ferdinandusse, S, McWalter, K, te Brinke, H, IJlst, L, Mooijer, P M, Ruiter, J P N, van Lint, A E M, Pras-Raves, M, Wever, E, Millan, F, Guillen Sacoto, M J, Begtrup, A, Tarnopolsky, M, Brady, L, Ladda, R L, Sell, S L, Nowak,
Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 4
Academic Journal
Vandana Shashi; Janelle Geist; Youngha Lee; Yongjin Yoo; Unbeom Shin; Kelly Schoch; Jennifer Sullivan; Nicholas Stong; Edward Smith; Joan Jasien; Peter Kranz; Yoonsung Lee; Yong Beom Shin; Nathan T. Wright; Murim Choi; Aikaterini Kontrogianni‐Konstantopoulos; Maria T. Acosta; David R. Adams; Aaron Aday; Mercedes E. Alejandro; Patrick Allard; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Deborah Barbouth; Gabriel F. Batzli; Alan H. Beggs; Hugo J. Bellen; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; David P. Bick; Camille L. Birch; Stephanie Bivona; Carsten Bonnenmann; Devon Bonner; Braden E. Boone; Bret L. Bostwick; Lauren C. Briere; Elly Brokamp; Donna M. Brown; Matthew Brush; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Olveen Carrasquillo; Ta Chen Peter Chang; Hsiao‐Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Precilla D'Souza; Surendra Dasari; Mariska Davids; Jean M. Davidson; Jyoti G. Dayal; Esteban C. Dell'Angelica; Shweta U. Dhar; Naghmeh Dorrani; Daniel C. Dorset; Emilie D. Douine; David D. Draper; Annika M. Dries; Laura Duncan; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Gregory M. Enns; Cecilia Esteves; Tyra Estwick; Liliana Fernandez; Carlos Ferreira; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; Noah D. Friedman; William A. Gahl; Rena A. Godfrey; Alica M. Goldman; David B. Goldstein; Jean‐Philippe F. Gourdine; Alana Grajewski; Catherine A. Groden; Andrea L. Gropman; Melissa Haendel; Rizwan Hamid; Neil A. Hanchard; Frances High; Ingrid A. Holm; Jason Hom; Alden Huang; Yong Huang; Rosario Isasi; Fariha Jamal; Yong‐hui Jiang; Jean M. Johnston; Angela L. Jones; Lefkothea Karaviti; Emily G. Kelley; David M. Koeller; Isaac S. Kohane; Jennefer N. Kohler; Deborah Krakow; Donna M. Krasnewich; Susan Korrick; Mary Koziura; Joel B. Krier; Jennifer E. Kyle; Seema R. Lalani; Byron Lam; Brendan C. Lanpher; Ian R. Lanza; C. Christopher Lau; Jozef Lazar; Kimberly LeBlanc; Brendan H. Lee; Hane Lee; Roy Levitt; Shawn E. Levy; Richard A. Lewis; Sharyn A. Lincoln; Pengfei Liu; Xue Zhong Liu; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; Marta M. Majcherska; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Thomas C. Markello; Ronit Marom; Martin G. Martin; Julian A. Martínez‐Agosto; Shruti Marwaha; Thomas May; Jacob McCauley; Allyn McConkie‐Rosell; Colleen E. McCormack; Alexa T. McCray; Jason D. Merker; Thomas O. Metz; Matthew Might; Eva Morava‐Kozicz; Paolo M. Moretti; Marie Morimoto; John J. Mulvihill; David R. Murdock; Avi Nath; Stan F. Nelson; J. Scott Newberry; John H. Newman; Sarah K. Nicholas; Donna Novacic; Devin Oglesbee; James P. Orengo; Stephen Pak; J. Carl Pallais; Christina GS. Palmer; Jeanette C. Papp; Neil H. Parker; Loren DM. Pena; John A. Phillips; Jennifer E. Posey; John H. Postlethwait; Lorraine Potocki; Barbara N. Pusey; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Jill A. Rosenfeld; Robb K. Rowley; Ralph Sacco; Jacinda B. Sampson; Susan L. Samson; Mario Saporta; Judy Schaechter; Timothy Schedl; Daryl A. Scott; Lisa Shakachite; Prashant Sharma; Kathleen Shields; Jimann Shin; Rebecca Signer; Catherine H. Sillari; Edwin K. Silverman; Janet S. Sinsheimer; Kevin S. Smith; Lilianna Solnica‐Krezel; Rebecca C. Spillmann; Joan M. Stoler; Jennifer A. Sullivan; David A. Sweetser; Cecelia P. Tamburro; Queenie K.‐G. Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Tiina K. Urv; Tiphanie P. Vogel; Daryl M. Waggott; Colleen E. Wahl; Nicole M. Walley; Chris A. Walsh; Melissa Walker; Jennifer Wambach; Jijun Wan; Lee‐kai Wang; Michael F. Wangler; Patricia A. Ward; Katrina M. Waters; Bobbie‐Jo M. Webb‐Robertson; Daniel Wegner; Monte Westerfield; Matthew T. Wheeler; Anastasia L. Wise; Lynne A. Wolfe; Jeremy D. Woods; Elizabeth A. Worthey; Shinya Yamamoto; John Yang; Amanda J. Yoon; Guoyun Yu; Diane B. Zastrow; Chunli Zhao; Stephan Zuchner
Human Mutation, vol 40, iss 8
Academic Journal
Schneeberger, Pauline E.; Kortüm, Fanny; Korenke, Georg Christoph; Alawi, Malik; Santer, René; Woidy, Mathias; Buhas, Daniela; Fox, Stephanie; Juusola, Jane; Alfadhel, Majid; Webb, Bryn D.; Coci, Emanuele G.; Abou Jamra, Rami; Siekmeyer, Manuela; Biskup, Saskia; Heller, Corina; Maier, Esther M.; Javaher-Haghighi, Poupak; Bedeschi, Maria F.; Ajmone, Paola F.; Iascone, Maria; Peeters, Hilde; Ballon, Katleen; Jaeken, Jaak; Rodríguez Alonso, Aroa; Palomares-Bralo, María; Santos-Simarro, Fernando; Meuwissen, Marije; Beysen, Diane; Kooy, Frank; Houlden, Henry; Murphy, David; Doosti, Mohammad; Karimiani, Ehsan G; Mojarrad, Majid; Maroofian, Reza; Noskova, Lenka; Kmoch, Stanislav; Honzik, Tomas; Cope, Heidi; Sanchez-Valle, Amarilis; Acosta, Maria T; Adam, Margaret; Adams, David R; Agrawal, Pankaj B; Alejandro, Mercedes E; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Batzli, Gabriel F; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H; Behrens, Edward; Bejerano, Gill; Bennet, Jimmy; Berg-Rood, Beverly; Bernier, Raphael; Bernstein, Jonathan A; Berry, Gerard T; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A; Burrage, Lindsay C; Butte, Manish J; Byers, Peter; Byrd, William E; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D; Coakley, Terra R; Cobban, Laurel A; Cogan, Joy D; Cole, F Sessions; Colley, Heather A; Cooper, Cynthia M; Craigen, William J; Crouse, Andrew B; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davids, Mariska; Dayal, Jyoti G; Deardorff, Matthew; Dell’Angelica, Esteban C; Dhar, Shweta U; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douine, Emilie D; Draper, David D; Duncan, Laura; Earl, Dawn; Eckstein, David J; Emrick, Lisa T; Eng, Christine M; Esteves, Cecilia; Estwick, Tyra; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L; Fisher, Paul G; Fogel, Brent L; Forghani, Irman; Fresard, Laure; Gahl, William A; Glass, Ian; Godfrey, Rena A; Golden-Grant, Katie; Goldman, Alica M; Goldstein, David B; Grajewski, Alana; Groden, Catherine A; Gropman, Andrea L; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M; Holm, Ingrid A; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P; Jarvik, Jeffrey; Jayadev, Suman; Johnston, Jean M; Karaviti, Lefkothea; Kelley, Emily G; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S; Kohler, Jennefer N; Krakow, Deborah; Krasnewich, Donna M; Kravets, Elijah; Korrick, Susan; Koziura, Mary; Krier, Joel B; Lalani, Seema R; Lam, Byron; Lam, Christina; Lanpher, Brendan C; Lanza, Ian R; Christopher Lau, C; LeBlanc, Kimberly; Lee, Brendan H; Lee, Hane; Levitt, Roy; Lewis, Richard A; Lincoln, Sharyn A; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K; Loscalzo, Joseph; Maas, Richard L; Macnamara, Ellen F; MacRae, Calum A; Maduro, Valerie V; Majcherska, Marta M; Malicdan, May Christine V; Mamounas, Laura A; Manolio, Teri A; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C; Marom, Ronit; Marth, Gabor; Martin, Beth A; Martin, Martin G; Martínez-Agosto, Julian A; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E; McCray, Alexa T; McGee, Elisabeth; Mefford, Heather; Merritt, J Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava-Kozicz, Eva; Moretti, Paolo M; Morimoto, Marie; Mulvihill, John J; Murdock, David R; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stan F; Newman, John H; Nicholas, Sarah K; Nickerson, Deborah; Novacic, Donna; Oglesbee, Devin; Orengo, James P; Pace, Laura; Pak, Stephen; Carl Pallais, J; Palmer, Christina GS; Papp, Jeanette C; Parker, Neil H; Phillips, John A; Posey, Jennifer E; Potocki, Lorraine; Pusey, Barbara N; Quinlan, Aaron; Raskind, Wendy; Raja, Archana N; Renteria, Genecee; Reuter, Chloe M; Rives, Lynette; Robertson, Amy K; Rodan, Lance H; Rosenfeld, Jill A; Rosenwasser, Natalie; Rowley, Robb K; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B; Samson, Susan L; Saporta, Mario; Scott, C Ron; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A; Sharma, Prashant; Shashi, Vandana; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H; Silverman, Edwin K; Sinsheimer, Janet S; Sisco, Kathy; Smith, Edward C; Smith, Kevin S; Solem, Emily; Solnica-Krezel, Lilianna; Spillmann, Rebecca C; Stoler, Joan M; Stong, Nicholas; Sullivan, Jennifer A; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A; Sybert, Virginia; Tabor, Holly K; Tamburro, Cecelia P; Tan, Queenie K -G; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J; Toro, Camilo; Tran, Alyssa A; Tucker, Brianna M; Urv, Tiina K; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P; Wahl, Colleen E; Wallace, Stephanie; Walley, Nicole M; Walsh, Chris A; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F; Ward, Patricia A; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T; Whitlock, Jordan; Wolfe, Lynne A; Woods, Jeremy D; Yamamoto, Shinya; Yang, John; Yu, Guoyun; Zastrow, Diane B; Zhao, Chunli; Zuchner, Stephan; Gelb, Bruce D; Kurth, Ingo; Hempel, Maja; Kutsche, Kerstin; Kortum, Fanny; Santer, Rene; Rodriguez Alonso, Aroa; Palomares-Bralo, Maria; Karimiani, Ehsan; Gelb, Bruce D.
Brain
Academic Journal
Dongxue Mao; Chloe M. Reuter; Maura R.Z. Ruzhnikov; Anita E. Beck; Emily G. Farrow; Lisa T. Emrick; Jill A. Rosenfeld; Katherine M. Mackenzie; Laurie Robak; Matthew T. Wheeler; Lindsay C. Burrage; Mahim Jain; Pengfei Liu; Daniel Calame; Sébastien Küry; Martin Sillesen; Klaus Schmitz-Abe; Davide Tonduti; Luigina Spaccini; Maria Iascone; Casie A. Genetti; Mary K. Koenig; Madeline Graf; Alyssa Tran; Mercedes Alejandro; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Patrick Allard; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Gabriel F. Batzli; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Gill Bejerano; Hugo J. Bellen; Jimmy Bennet; Beverly Berg-Rood; Raphael Bernier; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Lauren C. Briere; Elly Brokamp; Elizabeth A. Burke; Manish J. Butte; Peter Byers; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Mariska Davids; Jyoti G. Dayal; Esteban C. Dell’Angelica; Shweta U. Dhar; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Emilie D. Douine; David D. Draper; Laura Duncan; Dawn Earl; David J. Eckstein; Christine M. Eng; Cecilia Esteves; Tyra Estwick; Liliana Fernandez; Carlos Ferreira; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; Laure Fresard; William A. Gahl; Ian Glass; Rena A. Godfrey; Katie Golden-Grant; Alica M. Goldman; David B. Goldstein; Alana Grajewski; Catherine A. Groden; Andrea L. Gropman; Sihoun Hahn; Rizwan Hamid; Neil A. Hanchard; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Yong Huang; Rosario Isasi; Fariha Jamal; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Yong-hui Jiang; Jean M. Johnston; Lefkothea Karaviti; Emily G. Kelley; Dana Kiley; Isaac S. Kohane; Jennefer N. Kohler; Deborah Krakow; Donna M. Krasnewich; Susan Korrick; Mary Koziura; Joel B. Krier; Seema R. Lalani; Byron Lam; Christina Lam; Brendan C. Lanpher; Ian R. Lanza; C. Christopher Lau; Kimberly LeBlanc; Brendan H. Lee; Hane Lee; Roy Levitt; Richard A. Lewis; Sharyn A. Lincoln; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; Marta M. Majcherska; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Kenneth Maravilla; Thomas C. Markello; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Colleen E. McCormack; Alexa T. McCray; Heather Mefford; J. Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava-Kozicz; Paolo M. Moretti; Marie Morimoto; John J. Mulvihill; David R. Murdock; Avi Nath; Stan F. Nelson; John H. Newman; Sarah K. Nicholas; Deborah Nickerson; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips; Jennifer E. Posey; John H. Postlethwait; Lorraine Potocki; Barbara N. Pusey; Aaron Quinlan; Wendy Raskind; Archana N. Raja; Genecee Renteria; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Robb K. Rowley; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Susan L. Samson; Mario Saporta; C. Ron Scott; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; Lisa Shakachite; Prashant Sharma; Vandana Shashi; Jimann Shin; Rebecca Signer; Catherine H. Sillari; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Kevin S. Smith; Lilianna Solnica-Krezel; Rebecca C. Spillmann; Joan M. Stoler; Nicholas Stong; Jennifer A. Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Cecelia P. Tamburro; Queenie K.-G. Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Tiina K. Urv; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Stephanie Wallace; Nicole M. Walley; Chris A. Walsh; Melissa Walker; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Mark Wener; Monte Westerfield; Anastasia L. Wise; Lynne A. Wolfe; Jeremy D. Woods; Shinya Yamamoto; John Yang; Amanda J. Yoon; Guoyun Yu; Diane B. Zastrow; Chunli Zhao; Stephan Zuchner; Isabelle Thiffault
American Journal of Human Genetics, vol 106, iss 4
Academic Journal
Elly Brokamp; Mary E. Koziura; John A. Phillips; Leigh Anne Tang; Joy D. Cogan; Lynette C. Rives; Amy K. Robertson; Laura Duncan; Anna Bican; Josh F. Peterson; John H. Newman; Rizwan Hamid; Lisa Bastarache; Mercedes E. Alejandro; Mahshid S. Azamian; Carlos A. Bacino; Ashok Balasubramanyam; Bret L. Bostwick; Lindsay C. Burrage; Hsiao-Tuan Chao; Gary D. Clark; William J. Craigen; Shweta U. Dhar; Lisa T. Emrick; Alica M. Goldman; Neil A. Hanchard; Fariha Jamal; Lefkothea Karaviti; Seema R. Lalani; Brendan H. Lee; Richard A. Lewis; Ronit Marom; Paolo M. Moretti; David R. Murdock; Sarah K. Nicholas; James P. Orengo; Jennifer E. Posey; Lorraine Potocki; Jill A. Rosenfeld; Susan L. Samson; Daryl A. Scott; Alyssa A. Tran; Tiphanie P. Vogel; Hugo J. Bellen; Michael F. Wangler; Shinya Yamamoto; Christine M. Eng; Pengfei Liu; Patricia A. Ward; David B. Goldstein; Nicholas Stong; Heidi Cope; Yong-hui Jiang; Allyn McConkie-Rosell; Kelly Schoch; Vandana Shashi; Rebecca C. Spillmann; Jennifer A. Sullivan; Queenie K.-G. Tan; Nicole M. Walley; Pankaj Agrawal; Alan H. Beggs; Gerard T. Berry; Lauren C. Briere; Cynthia M. Cooper; Laurel A. Cobban; Elizabeth L. Fieg; Frances High; Ingrid A. Holm; Susan Korrick; Joel B. Krier; Sharyn A. Lincoln; Joseph Loscalzo; Richard L. Maas; Calum A. MacRae; J. Carl Pallais; Lance H. Rodan; Edwin K. Silverman; Joan M. Stoler; David A. Sweetser; Melissa Walker; Chris A. Walsh; Cecilia Esteves; Emily G. Kelley; Isaac S. Kohane; Kimberly LeBlanc; Alexa T. McCray; Matthew Might; David P. Bick; Camille L. Birch; Braden E. Boone; Donna M. Brown; Daniel C. Dorset; Angela L. Jones; Jozef Lazar; Shawn E. Levy; Thomas May; J. Scott Newberry; Elizabeth A. Worthey; Ian R. Lanza; Devin Oglesbee; Eva Morava-Kozicz; Brendan C. Lanpher; Surendra Dasari; Guney Bademci; Deborah Barbouth; Stephanie Bivona; Olveen Carrasquillo; Ta Chen Peter Chang; Irman Forghani; Alana Grajewski; Rosario Isasi; Byron Lam; Roy Levitt; Xue Zhong Liu; Jacob McCauley; Ralph Sacco; Mario Saporta; Judy Schaechter; Mustafa Tekin; Fred Telischi; Willa Thorson; Stephan Zuchner; Gabriel F. Batzli; Heather A. Colley; Jyoti G. Dayal; David J. Eckstein; Donna M. Krasnewich; Laura A. Mamounas; Teri A. Manolio; John J. Mulvihill; Robb K. Rowley; Catherine H. Sillari; Cecelia P. Tamburro; Tiina K. Urv; Anastasia L. Wise; Maria T. Acosta; Carsten Bonnenmann; Elizabeth A. Burke; Precilla D’Souza; Mariska Davids; David D. Draper; Tyra Estwick; Carlos Ferreira; Rena A. Godfrey; Catherine A. Groden; Jean M. Johnston; C. Christopher Lau; Ellen F. Macnamara; Valerie V. Maduro; Thomas C. Markello; Marie Morimoto; Avi Nath; Donna Novacic; Barbara N. Pusey; Prashant Sharma; Camilo Toro; Colleen E. Wahl; Guoyun Yu; Andrea L. Gropman; Eva Baker; David R. Adams; William A. Gahl; May Christine V. Malicdan; Cynthia J. Tifft; Lynne A. Wolfe; John Yang; Matthew Brush; Jean-Philippe F. Gourdine; Melissa Haendel; David M. Koeller; Jennifer E. Kyle; Thomas O. Metz; Katrina M. Waters; Bobbie-Jo M. Webb-Robertson; Euan A. Ashley; Jonathan A. Bernstein; Devon Bonner; Terra R. Coakley; Liliana Fernandez; Paul G. Fisher; Jason Hom; Yong Huang; Jennefer N. Kohler; Marta M. Majcherska; Shruti Marwaha; Colleen E. McCormack; Chloe M. Reuter; Jacinda B. Sampson; Kevin S. Smith; Matthew T. Wheeler; Diane B. Zastrow; Chunli Zhao; Maura Ruzhnikov; Laure Fresard; Holly K. Tabor; Archana N. Raja; Gill Bejerano; Beth A. Martin; Shirley Sutton; Patrick Allard; Manish J. Butte; Esteban C. Dell’Angelica; Naghmeh Dorrani; Emilie D. Douine; Brent L. Fogel; Alden Huang; Deborah Krakow; Hane Lee; Sandra K. Loo; Martin G. Martin; Julian A. Martínez-Agosto; Stanley F. Nelson; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; Genecee Renteria; Rebecca H. Signer; Janet S. Sinsheimer; Jijun Wan; Lee-kai Wang; Jeremy D. Woods; Amanda J. Yoon; Lorenzo Botto; Ashley Andrews; Nicola Longo; John Carey; John Bohnsack; Dave Viskochil; Moretti Paolo; Pace Laura; Justin Alvey; Jim Bale; Gabor Marth; Matt Velinder; Aaron Quinlan; Rong Mao; Pinar Bayrak-Toydemir; John H. Postlethwait; Monte Westerfield; Lisa Shakachite; F. Sessions Cole; Nichole Hayes; Dana Kiley; Kathleen Shields; Kathy Sisco; Jennifer Wambach; Daniel Wegner; Dustin Baldridge; Timothy Schedl; Lilianna Solnica-Krezel; Stephen Pak; Jimann Shin
Genetics in Medicine. 23:1830-1832
Academic Journal
Ilana M. Miller; Beverly M. Yashar; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell’Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; David D. Draper; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Marni Falk; Liliana Fernandez; Carlos Ferreira; Elizabeth L. Fieg; Laurie C. Findley; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Rena A. Godfrey; Katie Golden-Grant; Madison P. Goldrich; David B. Goldstein; Alana Grajewski; Catherine A. Groden; Irma Gutierrez; Sihoun Hahn; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Yong Huang; Alden Huang; Laryssa Huryn; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Lefkothea Karaviti; Jennifer Kennedy; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Susan Korrick; Mary Kozuira; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Joel B. Krier; Seema R. Lalani; Byron Lam; Christina Lam; Grace L. LaMoure; Brendan C. Lanpher; Ian R. Lanza; Lea Latham; Kimberly LeBlanc; Brendan H. Lee; Hane Lee; Roy Levitt; Richard A. Lewis; Sharyn A. Lincoln; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; John MacDowall; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; Rachel Mahoney; Bryan C. Mak; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Kenneth Maravilla; Thomas C. Markello; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martfnez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T. McCray; Elisabeth McGee; Heather Mefford; J. Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo M. Moretti; Paolo Moretti; Deborah Mosbrook-Davis; John J. Mulvihill; Mariko Nakano-Okuno; Avi Nath; Stanley F. Nelson; John H. Newman; Sarah K. Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina G. S. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips; Jennifer E. Posey; Lorraine Potocki; Bradley Power; Barbara N. Pusey; Aaron Quinlan; Archana N. Raja; Deepak A. Rao; Anna Raper; Wendy Raskind; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Jill A. Rosenfeld; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; C. Ron Scott; Vandana Shashi; Jimann Shin; Rebecca H. Signer; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Emily Solem; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Kathleen Sullivan; Jennifer A. Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Queenie K.-G. Tan; Amelia L. M. Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Audrey Thurm; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Brianna M. Tucker; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Stephanie Wallace; Nicole M. Walley; Chris A. Walsh; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz Hubshman; Mark Wener; Tara Wenger; Katherine Wesseling Perry; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Jeremy D. Woods; Kim Worley; Shinya Yamamoto; John Yang; Muhammad Yousef; Diane B. Zastrow; Wadih Zein; Zhe Zhang; Chunli Zhao; Stephan Zuchner
Orphanet J Rare Dis
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)
Academic Journal
Andrea Accogli; Sara Calabretta; Judith St-Onge; Nassima Boudrahem-Addour; Alexandre Dionne-Laporte; Pascal Joset; Silvia Azzarello-Burri; Anita Rauch; Joel Krier; Elizabeth Fieg; Juan C. Pallais; Maria T. Acosta; David R. Adams; Pankaj Agrawal; Mercedes E. Alejandro; Patrick Allard; Justin Alvey; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Deborah Barbouth; Gabriel F. Batzli; Pinar Bayrak-Toydemir; Alan H. Beggs; Gill Bejerano; Hugo J. Bellen; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; David P. Bick; Camille L. Birch; Stephanie Bivona; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Braden E. Boone; Bret L. Bostwick; Lorenzo Botto; Lauren C. Briere; Elly Brokamp; Donna M. Brown; Matthew Brush; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Hsiao-Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Precilla D’Souza; Surendra Dasari; Mariska Davids; Jyoti G. Dayal; Esteban C. Dell’Angelica; Shweta U. Dhar; Naghmeh Dorrani; Daniel C. Dorset; Emilie D. Douine; David D. Draper; Laura Duncan; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Tyra Estwick; Liliana Fernandez; Carlos Ferreira; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; Laure Fresard; William A. Gahl; Rena A. Godfrey; Alica M. Goldman; David B. Goldstein; Jean-Philippe F. Gourdine; Alana Grajewski; Catherine A. Groden; Andrea L. Gropman; Melissa Haendel; Rizwan Hamid; Neil A. Hanchard; Nichole Hayes; Frances High; Ingrid A. Holm; Jason Hom; Alden Huang; Yong Huang; Rosario Isasi; Fariha Jamal; Yong-hui Jiang; Jean M. Johnston; Angela L. Jones; Lefkothea Karaviti; Emily G. Kelley; Dana Kiley; David M. Koeller; Isaac S. Kohane; Jennefer N. Kohler; Deborah Krakow; Donna M. Krasnewich; Susan Korrick; Mary Koziura; Joel B. Krier; Jennifer E. Kyle; Seema R. Lalani; Byron Lam; Brendan C. Lanpher; Ian R. Lanza; C. Christopher Lau; Jozef Lazar; Kimberly LeBlanc; Brendan H. Lee; Hane Lee; Roy Levitt; Shawn E. Levy; Richard A. Lewis; Sharyn A. Lincoln; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; Marta M. Majcherska; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Thomas C. Markello; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Thomas May; Jacob McCauley; Allyn McConkie-Rosell; Colleen E. McCormack; Alexa T. McCray; Thomas O. Metz; Matthew Might; Eva Morava-Kozicz; Paolo M. Moretti; Marie Morimoto; John J. Mulvihill; David R. Murdock; Avi Nath; Stan F. Nelson; J. Scott Newberry; John H. Newman; Sarah K. Nicholas; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips; Jennifer E. Posey; John H. Postlethwait; Lorraine Potocki; Barbara N. Pusey; Aaron Quinlan; Archana N. Raja; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Jill A. Rosenfeld; Robb K. Rowley; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Susan L. Samson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; Lisa Shakachite; Prashant Sharma; Vandana Shashi; Kathleen Shields; Jimann Shin; Rebecca Signer; Catherine H. Sillari; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Kevin S. Smith; Lilianna Solnica-Krezel; Rebecca C. Spillmann; Joan M. Stoler; Nicholas Stong; Jennifer A. Sullivan; Shirley Sutton; David A. Sweetser; Holly K. Tabor; Cecelia P. Tamburro; Queenie K.-G. Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Tiina K. Urv; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Nicole M. Walley; Chris A. Walsh; Melissa Walker; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Katrina M. Waters; Bobbie-Jo M. Webb-Robertson; Daniel Wegner; Monte Westerfield; Matthew T. Wheeler; Anastasia L. Wise; Lynne A. Wolfe; Jeremy D. Woods; Elizabeth A. Worthey; Shinya Yamamoto; John Yang; Amanda J. Yoon; Guoyun Yu; Diane B. Zastrow; Chunli Zhao; Stephan Zuchner; Marie McDonald; Sharon F. Freedman; Jean-Baptiste Rivière; Joël Lafond-Lapalme; Brittany N. Simpson; Robert J. Hopkin; Aurélien Trimouille; Julien Van-Gils; Amber Begtrup; Kirsty McWalter; Heron Delphine; Boris Keren; David Genevieve; Emanuela Argilli; Elliott H. Sherr; Mariasavina Severino; Guy A. Rouleau; Patricia T. Yam; Frédéric Charron; Myriam Srour
American Journal of Human Genetics, vol 105, iss 4
Academic Journal
Elena-Raluca Nicoli; Mary R. Weston; Mary Hackbarth; Alissa Becerril; Austin Larson; Wadih M. Zein; Peter R. Baker; John Douglas Burke; Heidi Dorward; Mariska Davids; Yan Huang; David R. Adams; Patricia M. Zerfas; Dong Chen; Thomas C. Markello; Camilo Toro; Tim Wood; Gene Elliott; Mylinh Vu; Maria T. Acosta; Pankaj Agrawal; Mercedes E. Alejandro; Patrick Allard; Justin Alvey; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Deborah Barbouth; Gabriel F. Batzli; Pinar Bayrak-Toydemir; Alan H. Beggs; Gill Bejerano; Hugo J. Bellen; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; David P. Bick; Camille L. Birch; Stephanie Bivona; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Braden E. Boone; Bret L. Bostwick; Lorenzo Botto; Lauren C. Briere; Elly Brokamp; Donna M. Brown; Matthew Brush; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Hsiao-Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Precilla D'Souza; Surendra Dasari; Jyoti G. Dayal; Esteban C. Dell'Angelica; Shweta U. Dhar; Naghmeh Dorrani; Daniel C. Dorset; Emilie D. Douine; David D. Draper; Laura Duncan; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Tyra Estwick; Liliana Fernandez; Carlos Ferreira; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; Laure Fresard; William A. Gahl; Rena A. Godfrey; Alica M. Goldman; David B. Goldstein; Jean-Philippe F. Gourdine; Alana Grajewski; Catherine A. Groden; Andrea L. Gropman; Melissa Haendel; Rizwan Hamid; Neil A. Hanchard; Nichole Hayes; Frances High; Ingrid A. Holm; Jason Hom; Alden Huang; Yong Huang; Rosario Isasi; Fariha Jamal; Yong-hui Jiang; Jean M. Johnston; Angela L. Jones; Lefkothea Karaviti; Emily G. Kelley; Dana Kiley; David M. Koeller; Isaac S. Kohane; Jennefer N. Kohler; Deborah Krakow; Donna M. Krasnewich; Susan Korrick; Mary Koziura; Joel B. Krier; Jennifer E. Kyle; Seema R. Lalani; Byron Lam; Brendan C. Lanpher; Ian R. Lanza; C. Christopher Lau; Jozef Lazar; Kimberly LeBlanc; Brendan H. Lee; Hane Lee; Roy Levitt; Shawn E. Levy; Richard A. Lewis; Sharyn A. Lincoln; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; Marta M. Majcherska; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Thomas May; Jacob McCauley; Allyn McConkie-Rosell; Colleen E. McCormack; Alexa T. McCray; Thomas O. Metz; Matthew Might; Eva Morava-Kozicz; Paolo M. Moretti; Marie Morimoto; John J. Mulvihill; David R. Murdock; Avi Nath; Stan F. Nelson; J. Scott Newberry; John H. Newman; Sarah K. Nicholas; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips; Jennifer E. Posey; John H. Postlethwait; Lorraine Potocki; Barbara N. Pusey; Aaron Quinlan; Archana N. Raja; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Jill A. Rosenfeld; Robb K. Rowley; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Susan L. Samson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; Lisa Shakachite; Prashant Sharma; Vandana Shashi; Kathleen Shields; Jimann Shin; Rebecca Signer; Catherine H. Sillari; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Kevin S. Smith; Lilianna Solnica-Krezel; Rebecca C. Spillmann; Joan M. Stoler; Nicholas Stong; Jennifer A. Sullivan; Shirley Sutton; David A. Sweetser; Holly K. Tabor; Cecelia P. Tamburro; Queenie K.-G. Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Alyssa A. Tran; Tiina K. Urv; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Nicole M. Walley; Chris A. Walsh; Melissa Walker; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Katrina M. Waters; Bobbie-Jo M. Webb-Robertson; Daniel Wegner; Monte Westerfield; Matthew T. Wheeler; Anastasia L. Wise; Lynne A. Wolfe; Jeremy D. Woods; Elizabeth A. Worthey; Shinya Yamamoto; John Yang; Amanda J. Yoon; Guoyun Yu; Diane B. Zastrow; Chunli Zhao; Stephan Zuchner; Wei Zheng; Lisa J. Garrett; Debra L. Day-Salvatore; Joseph A. Mindell
American Journal of Human Genetics, vol 104, iss 6
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[검색어] Bonnenmann, C.
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